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Part 27. The Nervous System

Part 27 : 메리놀 병원

PART 27. The Nervous system

CHAP 541. Neurologic Evaluation


1) Chief complaint and history of present illness

2) Review of the pregnancy, labor, and delivery (birthweight, length, head circumference and Apgar score)

3) Review of newborn period

4) *Children development assessment

    ; the most important component

           - global delay in language

    - gross and fine motor or social skills

       - delay in a particular subset of development

Table 541-1

5) Family history

    ; epilepsy, migraine, cerebrovascular  accidents, and heredofamiIial disorders

           sex and age at death of miscarriages or live-born siblings

6) Child`s performance in school

  Child`s personality before and after the onset of symptom

Neurologic exam.

The Head

      1. size and shape of the head

      2. fontanels

      3. palpation

      4. auscultation of skull

      5. transillumination

      6. measurement of head circumference

Size and shape of the head

    ; tower head or oxycephalic skull

       - premature closure of sutures

    - associated with various forms of inherited craniosynostosis)

    ; broad forehead

           - hydrocephalus

  ; small head

           - microcephalus

  ; *square or box-shaped skull

           - chronic subdural hematoma

  ; marked venous distention on scalp

           - IICP & thrombosis of sup. sagittal sinus


1) ant. fontanels

    ; usual 2x2cm(variable)

  ; average time of closure

           - 18months ( normaily close as early as 9-12mon.)

    ; very small or absent ant. fontanel at birth

        - premature fusion of the suture of microcephaly

    ; large fontanels

        Table 79-1

2) posterior fontanels

    ; closed & nonpalpable beyond the first 6-8 wk

    ; persistence

           - underlying hydrocephalus, congenital hypothyroidism

    ; bulging fontanel

           - IICP(vigorous crying 제외)

# fontanel is normally slightly depressed and pulsatile and is best evaluated when infant is held upright and is asleep or feeding


      * craniotabes- peculiar softening of the parietal bone

                     gentle pressure  ping-pong ball sensation

                     often associated with prematurity

      * overiding of cranial suture ;생후 정상적 소견

                                   -> 이후 underlying abnormality of brain 암시

Auscultation of skull

# cranial bruits

    ; * prominant over anterior fontanel, temporal region, the orbits

    ; best heard by diaphragm of the stethoscope

    ; loud or localized bruit --> significant & warrants further investigation

    ; soft symmetric bruits

           - in normal children less than 4yr /c febrile illness.

    ; loud bruit

           - Arteriovenous malformations of the middle cerebral artery or vein of Galen

           - transmitted to the cranium by murmurs arising from heart or great vv.

           - severe anemia

           - IICP

                   /hydrocephalus,tumor,subdural effusions, or purulent meningitis


    ; examed in dark room with bright flashlight

    ; 82 greater transllumination

           - newborn or premature infant

    ; 82 asymmetric, localized, or diffuse transilltlmination

           - hydranencephaly

           - marked hydrocephalus with a thin cortical mantle

     - porencephalic or arachnoid cyst

     - Dandy-Walker syndrome

           - subdural effusions complicating meningitis

    ; decrease transillumination

           - acute subdural hematomas

Measurement of head circumference

(모든 환자에서 방문시 마다 기록)

       * midforehead- most prominent portion of the occiput 포함해 greatest

          volume 측정

       *  average rate of head growth in a healthy prematurity

               ; 0.5cm/1st 2wk.

                 0.75cm/3rd wk.

                 1cm/4th wk.------ 40wks.

       * term at birth 34-35cm

                 6mon.    44cm

                 1year    47cm

       * error in newborn skull 측정

           원인; scalp edema

                 over-riding of suture

                 i.v. fluid infiltration


Cranial nerve

Olfactory n.

       1. transient anosmia, loss of smell-asso. with URI;most common

       2. fracture of the base of the skull & cribriform plate, frontal lobe


       3. recovers from purulent meningitis,hydrocephalus- sense of smell 감소

       4. congenital anosmia-rare

Optic n.

# papilledema  fig. 541-1

1. optic nerve becomes hyperemic.

2. small capillaries are no longer visualized as they become


3. larger veins become dilated & the accompanying arterioles become


4. border of the optic nerve becomes indistinct from the surrounding


   (particularly along the temporal edge)

5. Subhyaloid, flame-shaped hemorrhages appear in the retina

   surrounding the optic nerve.

6. macular star due to retinal edema in macula.



acute papilledema

optic neuritis




color vision



blind spots




# retinal hemo. ;30-40% of all full term

          vag. delivery > C/S

          not asso. with birth inj. & neurologic Cx.

          1-2wk.--------spontaneous disappear


; 28wks premature

    - blinks when bright light

; 37wks preterm

    - turns head, eyes to a soft light

; *term

    - visual fixation

; visual acuity

    - term infant : 20/150

           --> 6mo : 20/20 of adult level

1. drug

2. space-occupying brain lesion

3. metabolic disorder

4. abnormalities of the midbrain and optic nerves

# Horner syndrome

  ; miosis, ptosis, enophthalmos, ipsilat. anhydrosis of face

    ; cause

           - congenital or acquired

           - lesion involving the sympathetic nervous system in the brain stem, cervical spinal cord

           - lesion involving sympathetic plexus in juxtaposition to the carotid artery

Oculomotor, Trochlear, Abducens nerves

# EOM(Extraocular m.)innervation

  1) III.(oculomotor)

      -> sup.rectus




         levator palpabra

         superioris m.

  2) IV.(trochlear)

      -> sup.oblique m.

  3) VI.(abducens)

      -> lat.rectus m.

# red glass test; assess extraocular palsy in old children

* intranuclear ophthalmoplegia

  ; lesion in brain stem

  ; paralysis of med. rectus function of the adducting eye & nystagmus confined to abducting eye

* internal ophthalmoplegia

    ; dilated pupil that is unresponsive to light & accomodation

    ; normal EOM function

* external ophthalmoplegia

    ; ptosis & paralysis of all eye muscles with preservation of pupillary response

# nystagmus; involuntary rapid eye movement

   종류-1. horizontal n.; pph.labyrinth or br. stem,cbll. vestibular

           system, drug(esp.phenytoin)

        2. vertical n.; brain stem dysfunction

        3. rotatory n.

        4. pedunlar n.

        5. mixed n.

* Doll`s eye maneuver

    ; complete movement as early as *25wks of gestation

    ; infant, or the uncooperative or comatose patient에서 horizontal & vertical movement 검사

Trigemial n.

1. sensory distribution of face

   -> 3 area divided

      1)  ophthaimic area

      2)  maxillary area

      3)  mandibular area.

    -light touch,pinprick test,corneal response test

   # premature baby에서 trigemial n. function test

     ; facial grimacing from a pinprick

       stimulating the nostril with a cotton tip

2. motor function

   1) exam of  massetars, pterygoid, temporalis muscles during mastication

   2) jaw jerk  evaluation

Facial n.

  UMN.(supranuclear) lesion

   -- decrease voluntary movement of lower face

      flattening of nasolabial angle on ipsilat. side

  LMN. lesion

   -- equally involve upper & lower facial m.

# taste for ant. 2/3 of tongue

# facial n. paralysis 원인

  1. congenital

  2. secondary to trauma,infection,intracranial tm.,toxins,

                  myasthenia gravis,hypertenaion

Auditory n.

# audiometry or brain-stem evoked potential test

  -- hearing loss suspect되는 any child에게 필수적

# 3mo

    ; head toward a bell, rattle, crumpled paper

Risk factors need for hearing testing

  1. FHx. of deafness

  2. prematurity

  3. severe asphxia

  4. use of ototoxic drugs in newborn period

  5. hyperbilirubinemia

  6. bacterial meningitis

  7. congenital infection due to rubella, toxoplasmosis, herpes, CMV(TORCH)

  8. congenital anomaly of the head,neck

# vestibular function test-- caloric test

   comatose patient; ice water 0.5cc

   alert awake patient; ice water 0.5cc

   - ext. auditory canal 주입(head elevation 30)

     1) 정상;opposite direction으로 nystagmus quick component 발생

     2) no response; severe dysfunction of brain stem & med. longitudinal


   CIx.;TM rupture

Glossopharyngeal n.

        - innervation to the stylopharynoeus muscle

 # test; 1. gag response to tactilc stimulation of the posterior pharyngeal wall

         2. taste for post 1/3 of tongue

Vagus n.

1. unilateral injury

   1) weakness and asymmetry of the ipsilateral soft palate

   2)  hoarse voice due to paralysis of a vocal cord

2. bilateral lesion

   1) respiratory distress

   2) nasal regurgitation of fluid

   3) pooling of secretion

   4) immobile, low-lying soft palate

# isolated lesion 원인

   1) postop.(thoracotomy)

   2) type II Chiari malformation

Accessory n.

     ; sternomastoid and trapezius muscles paralysis and atrophy 일으키는 원인

          1. lesions of the accessory nerve

          2. motor neuron disease

          3. myotonic dystrophy

          4. myasthenia gravis

Hypoglossal n.

  --> tongue innervates; motility,size,shape,atrophy or fascicu]ations 유무 평가

      malfunction--> wasting, weakness, and fasciculations of the tongue

      bilat.injury--> tongue protrusion 불가능


      # principle causes of hypoglossal nerve involvement.

        1. Werdnig-Hoffmann disease(infantile spinal muscular atrophy)

        2. congenital anomalies in the region of the foramen magnum

Motor exam.



    0 = no movement,

  1 = minimal'contraction

  2 = movement only in the horizontal plane (with gravity)

  3 = movement against gravity

  4 = movement against gravity and resistance

  5 = normal strength

# Gowers' sign (Fig. 541-2)

  ; weakness in pelvic girdle & proximal lower extremity muscles


# neonate

    ; scarf sign

  ; popliteal angle

95 Spasticity

    ; clasp-knife phenomenon

        - *initial resistance to passive movement followed by sudden release

    ; more apparent in upper extremity flexors and lower extremity extensor muscles

    ; *associated with brisk tendon reflexes, extensor plantar reflex, clonus, diminished active movements, disuse atrophy

    ; *UMN diseases


    ; sudden dorsiflexion of the foot with knee partially flexed

    ; in newborn

           - *normal unless asymmetric


    ; *basal ganglia lesion

  ; constant resistance to passive movement of *both extensor & flexor m.

    ; cogwheel sensation


Decerebrate Rigidity


    ; * abnormal tone in preterm or full-term

    ; pathology of cbr., cbll., spinal cord, ant. horn cell, pph. n., myoneuronal junction, muscle

    ; floppy

    ; frog-leg posture

Motility And Locomotion

# cerebellar lesion

    ; ataxia

           - incoordination of movement or a disturbance of balance

    - truncal ataxia

                   / cerebellar vermis lesion

               / unsteadiness during sitting or standing

    - demonstrated by the finger-to-nose, heel-to-shin tests, heel-to-toe or tandem walking

     - infant

                   / by observation of reaching for or playing with toys

    ; intention tremor unaffected by visual attention

    ; dysmetria - errors in measuring distances

  ; rebound - inability to inhibit a muscular action

  ; dysdiadochokinesia - diminished performance of rapid alternating movement

    ; hypotonia

  ; dysarthria

  ; nystagmus

    ; DTR 감소

 cf. 32wks 이후 motor activity; 주로 flexor

* Romberg sign

    ; unsteady with eye closed, but not open

  ; positive

           - sensory ataxia

           - lesion in spinal cord & pph. n.

82,87 Basal Ganglia Lesion

    a. chorea

        ; involuntary rapid & jerky movement the major joints, trunk, the face

       ; incapable of extending the arms /s abnormal movements

           ; milkmaid sign

                   - hand grip contracts and relaxes

           ; speech is explosive & inarticulate

           ; tendency to pronate arms when held above head

           ; hang up DTR

    b. athetosis

       ; slow, writhing movement, often associated with abnormality of muscle tone

    ; prominant in distal ext.

           ; enhanced by voluntary activity or emotional upset

    c. dystonia

       ; involuntary, slow, twisting movement

    ; primarily in prox. m. of ext., trunk, neck

DTR & plantar response

# premature infant에서 most reliable DTR

  ; biceps, knee, and ankle jerks

# absent or decreased DTR

   i. primary myopathy

  ii. neuropathy

  iii. myoneural junction disorder

  iv. cerebellar abnormality

# Babinski reflex

# increased DTR; UMN disease

# asymetry of DTR; lateralizing lesion

Primitive reflex

# snout or rooting reflex

  ; reappear during old age or specific cerebral degenerative disease involving cerebral cortex

# ★▲important primitive reflex

    ; *moro, grasp, tonic-neck, parachute reflexes

# Moro reflex

    ; asymetric

           - clavicle flacture, brachial plexus injury, hemiparesis

    ; *absence in term newborn

           - *omnious significant dysfunction of the CNS

# grasp reflex

# tonic neck reflex

# parachute reflex

Sensory exam.

   - spinal cord lesion sensory level 결정

Gait & station

# spastic gait; stiffness and by a "tin soldier"-like steppage appearance

# circumduction gait; decreased arm swing on the affected side and a lateral

     circular motion of the leg - hemiparesis 나타남

# cerebellar lesion; ataxic broad-based unsteady gait(tandem gait)

# waddling gait; weakness of the proximal hip girdle compensatory 1ordosis


# weakness or hypotonia of the lower extremities;  clumsy, tentative gait

# scoliosis; disorders of muscle and spinal cord.

            abnormal gait 유발

General Exam.

Soft Neurologic Sign

; *particular form of deviant performance on a motor or sensory test in the neurologic examination that is abnormal for a particular age

; present in normal children during various stages of neurodevelopment

; testing

    - series of timed motor tasks, comparision of quality and precision of patients movement with normal controls of similar age and sex

    - 종류

           / *repetitive and successive finger movements, hand pats, arm pronation-supination movements, foot taps, hopping, tandem walking

; examples

    - *minimal choreoathetoid movements in finger of extended arm

           / *normal at 4yr of age but disappear by 7 or 8yr age

; *2 or more persistent soft neurologic sign

  - *correlation with neurologic dysfunctions

           / ADD(attention deficit disorder), learning disorders, cerebral palsy

Special Diagnostic Procedure

Lumbar puncture & CSF exem.

# essential in confirming the diagnosis

         1. meningitis

         2. encephalitis

         3. subarachnoid hemorrhage

# helpful in the evaluation of demyelinating, degenerative, and collagen vascular diseases and the presence of tumor cells within the subarachnoid space

# ideal interspace for lumbar puncture (LP)

    ; L3-L4 or L4-L5

# normal CSF pressure

    ; 100-280mmH2O

    ; elevated opening pressure

           - crying, uncooperative struggling patients

                   / *common

           - IICP

# sick neonates

    ; upright posion에서 시행

           - recumbent position

                   --> decreased ventilation and perfusion abnormalities 

                   --> respiratory arrest

# Contraindication

    1) IICP owing to a suspected mass

          lesion of the brain or spinal cord ---->transtentorial herniation

          or herniation of the cbllar tonsills

          (LP 시행 papilledema 유무 관찰 필수적)

    2) Sx. & sg. of pending cerebral herniation with provable meningitis

      : decerebrate a decorticate posture, generalized tonic seizure,

        abn`l of pupil size & reaction, respiratory abn`l

      --> immediate AB(iv) start & imaging study (CT)

  3) critically ill, moribund patient --> cardiorespratory arrest 가능

  4) skin infection at the site of L.P

  5) thrombocytopenia ; 20000 이하

#normal CSF cell count

      5 lymphoccyte/mm3 이하 & no RBC  PMN - abnormal in child

       ( new born ; 15 lymphocyte/mm3이하 & 1-2 PMN/mm3)

# increase PMN in CSF

    1. bacterial meningitis

    2. early phase of aseptic meningitis

# increase lymphocyte in CSF

    1. aseptic meningtis

      Tbc meningtis

      fungal meningtis

    2. demyelinating disease

    3. brain or spinal cord tumor

    4. immunologic disorder ( collagen vascular disease )

    5. chemical irritation ( postmyelogram, intrathecal MTX )

# Bloody CSF

cf. crenated RBC 존재로 감별

    ; Xanthochromic CSF

       - SAH

       - *hyperbilirubinemia

       - carotenemia

       - increased CSF protein

# CSF protein

    ; 10-40 mg/dl

  ; neonate 120mg/dl 이하

           - 3 개월 이후 10-40mg/dl

  ; increased protein

           - infectious,immunologic,vascular & degenerative ds.

       - tm. of brain & spinal cord

    - bloody tap (1mg/dl for every 1000 RBC/mm3) 

# CSF Ig G

    ; *10% of total protein

    ; Increased IgG

    - SSPE

    - postinfectious encephalomyelitis

    - multiple sclerosis

# CSF glucose

    ; blood sugar 60%

  ; Hypoglucorrhachia

           - diffuse meningeal ds. (bacterial & Tbc. meningtis )

    - wide spread neoplastic involvement of meninges

       - SAH 

    - fungal meningtis

    - aseptic meningtis

Subdural tap

    ; Ix

           - Dx of subdural effusion or hematoma

    ; 94 Sites

           - lat. border of ant. fontanel

           - along upper margin of coronal suture at least 2-3cm from the midline

      bilat. subdural tap

    ; the amount of fluid removed with each tap should be limited to total 15-20ml from each side

           - in order to prevent rebleeding from a sudden shift of intracranial content

Ventrcular tap

    ; conservative measure 실패한 life threatening increased ICP

      ass with hydrocephalus

Neuroradiologic procedures

Skull Roentgenogram

      # demonstrate 1.fx.

                    2. intracranial calcification

                    3. craniosynostosis

                    4. congenital anomalies

                    5. bony defects

                ##  6. evidence of IICP

                          acute -- suture seperation

                        chronic -- old children에서 post clinoid proc. erosion

                                   sella turcica enlargement

                                   conventional marking 증가

                                   (beaten silver appearance)

CT scan

 ### useful in demonstrating

      1. cong. malformation of brain ( hydrocephalus, porencephalic cyst )

      2. subdural collection

      3. cbr. atrophy

      4, intracranial calcification

      5. intracranial hematoma

      6. brain tumor

      7. cbr. edema, infartion, demyelination

      8. AV malformation


      장점 ; 1. noninvasive ( no ionizing radiation )

             2. neoplasm

               cbr. edema

               degerative disease

               congenital anomaly (particularly of post. fossa & spinal cord)

             3. detect small plaques in pt. with multiple sclerosis &

                areas of localized gliosis in children with uncontrolled seizure

      단점 ; intracbr. calcification detection안됨

Radionuclide Brain Scan

        herpes encephalitis & cbr. abscess

PET ( Positron Emission Tomography )

       ; brain metabolism & perfusion 측정

        -- epilepsy, metabolic, neurobehavioral disorder

SPECT ( Single Photon Emission Computerized Tomography )

    ; regional cerebral blood flow 측정

  ; Use

           - cerebral vascular ds in SLE

           - herpes encephalitis

           - localization of focal epileptiform discharges

           - recurrent brain tumors

Cranial Ultrasound

    ; fontanel patent infant 제한



                                          3.intracrnial tm.


    ; congenital anomaly, tumor, vascular malformation of spinal cord



# frequency 따라 delta    / theta   / alpha   / beta

                          1-3       4-7      8-12    13-20/sec

# 영향을 주는 요소

     1. age

     2. state of alertness

     3. eye closure

     4. drugs

     5. disease state

# Normal Variants Wave

    ; K complex - high voltage slow & sharp wave

  ; sleep spindle - regular 12-14/sec

    --> confined to central region during sleep

# Abnormality Of Waveform

    ; spikes and slow waves

           - spikes / paroxysmal sharp high voltage followed by a slow wave

    ; asso. with epilepsy

# focal spikes

    ; asso. with irritative lesions

        - cysts, slow growing tm, glial scar tissue

# focal slow wave

    ; circumscribed lesions

       - hematoma, infartion, localized infectious process

# generalized slow wave

    ; *metabolic, inflammatory, more widespread process

# Activation Procedure Of Epileptiform Activity

  1) hyperventilation

  2) photic stimulation

  3) sleep deprivation

  4) eye closure

  5) special electrodes placement ( zygomatic lead )

# EEG/polygraphic/video monitoring

  1) seizure type 결정에 도움이

  2) epileptic seizure & pseudoseizure 감별 가능

  3) quantification of seizure discharge

  4) study of efficacy of various therapeutic regimen

  5) newborn 에서 physiologic & EEG discharge 함께 record seizure 관찰에 유용

Evoked Potentials

; electrical response that follows stimulation of CNS by

                     specific stimulation of visual, auditory or sensory system

VEP( visual EP)

     retina-visual cortex 까지의 visual system involve 하는 경우

     abnormal finding 나타남

    1. neurodegerative disease

       (Tay-sachs,Krabbes,Pelizaeus-merzbacher disease, neuronalceroid


    2. lesions of optic chiasm & n.

    3. useful in assessment of visual function in at risk neonates 

BAEPs( brain stem auditory EP )

    ; hearing acuity in neonate, uncooperative child

    ; neurodegerative disease

  ; cerebellopontine angle tumor

    ; *brain stem function assessment of comatous patient

           - *약물이나 의식상태에 영향을 받지않기 때문

SSEP( somatosensory EP )

    1. determines the functional integrity of the dorsal column-medial

        lemniscal system

    2. useful in monitoring spinal cord system during op procedure

       ( scoliosis, COA, myelomeningocele )

    3. neurodegenerative disease

    4. the most accurate evoked potentials in the assessment of neurologic

        outcome following a severe CNS insult

Chapter 542. Congenital Anomaly Of The CNS 

542.1  Neural tube defect ( dysraphism )

          account for most congenital anomaly of CNS

          태생 3-4주경 neural tube spontaneous closure 실패로 인함

          ( radiation, drug, malnutrition, chemical, genetic determinates )

     ## 종류

        1. spina bifida occulta

        2. meningocele

        3. meningomyelocele

        4. encephalocele

        5. anencephaly

        6. demal sinus

        7. tethered cord

        8. syringomyelia

        9. diastematomyelia

       10. lipoma involving conus medullaris

      # biochemical markers of neural tube defects

        ; 1. AFP -- prenatal screening test of neural tube defects

          2. acetylcholinesterase in amniotic fluid

542.2 Spina Bifida Occulta

; *midline defect of vertebral bodies without protrusion of spinal cord or meninges

; *benign form of dysraphism

; *mostly asymptomatic & no neurologic sign & no consequence

# Suggestion of spina bifida occulta on lower back

    1. patches of hair       

    2. lipoma              

  3. discoloration of skin 

  4. dermal sinus                           

# spine roentgenogram

    ; defect in closure of post. vertebral arch & lamina *(esp. L5 & S1)

# Asso. developemental anomaly of spinal cord

    1. syringomyelia

  2. diastematomyelia

  3. tethered cord

# Dermoid sinus

    ; small opening in the skin

         - narrow duct 형성

    ; site

           - midline at meningocele or encephalocele

           - lumbosacral or occipital region

  ; conduit for infection spread

           - recurrent meningitis of occult origin 의심

542.3 Meningocele

; herniation of meninges through a defect on the post. vertebral arch

; spinal cord ~ normal

; fluctuant midline mass, transillumination (+) in low back with skin covering

# Prior to surgical correction

    1. careful neurologic exam

  2. plain roentgenogram

  3. ultrasound

  4. CT scaning with metrozamide or MRI


    1. delayed surgery

           ; asymptomatic normal neurologic exam. & full thickness skin covering

    2. immediate surgical treatement

           ; CSF leakage or thin skin covering (meningitis방지 위해)

# associated anomaly

    1. diastematomyelia, tethered spinal cord, lipoma

    2. hydrocephalus - brain CT scan

    *3. rectovaginal fistula, vaginal septa in female

542.4  Myelomeningocele

; severe form of dysraphism involving vertebral column

; incidence

    - 1/1000 live births


     unknown ; 1. genetic predisposition

               2. nutritional & environmental factor

                   ( preconceptual vitamines & folate deficiency )

               3. drugs ; valporic acid

Clinical Manifestation

    ; *common site - lumbosacral region (75%)

# low sacral lesion

    ; *bowel & bladder incontinence

  ; anesthesia in peripheral area

  ; *no impairment of motor function

# mid-lumbar lesion

    ; sac like cystic structure covered by a thin layer of partially

    ; *flaccid paralysis of lower extremities

    ; abscence of DTR

    ; lack of response to touch & pain

  ; high incidence of postural abnormalities of the lower ext. ( club foot, subluxation of hip)

    ; constant urinary dribbling & relaxed anal sphincter ( LMN sign due to abnormalities & disruption of conus medullaris)

# higher into the thoracic region, increasing neurologic deficits

# upper thoracic or cervical region

  ; very minimal neurologic deficits

  ; 대개 hydrocephalus 동반 안함

# myelomeningocele 환자의 80% 이상에서 type II Chiari defect 연관된 hydrocephalus 동반

  ; hindbrain dysfunction

           - difficult feeding, chocking, stridor, apnea vocal cord paralysis, pooling of secretion, spasticity of upper ext.

           - 사망초래 가능

# Chiari crisis ; downward herniation of medulla & cerebellar tonsils through foramen magnum

# site 낮을수록 hydrocephalus risk 낮아짐.


; multidisciplinary team approach

; *최근에는 delayed operation 선호

    - why?

           - allows the parents to begin to adjust to the shock and to prepare for the multiple procedures and inevitable problems 

# early treatement Ix. in UK

  ; marked paralysis of legs

    ; thoracolumbar or thoracolumboscral lesion

    ; kyphosis or scoliosis

    ; associated birth injury

    ; other congenital defect of the heart, brain, GI tract

    ; grossly enlarged head

# *가장 최근에는 대부분의 센터에서는 aggressive treatment 하고 있다.

# myelomeningocele repair 대부분에서 hydrocephalus 대한 shunting procedure

# hindbrain dysfunction early surgical decompression of medulla & cervical cord 필요

# Careful Evaluation & Reassessment Of GU System

    ; neurogenic bladder

        - regular catheterization to maintain a low residual volume

                   --> prevention of UTI, reflux, pyelonephritis, hydronephrosis

    ; periodic urine culture and assessment of renal function

           - serum electrolyte, creatinine, renal scan, IVP, ultrasound


       aggressive Tx. mortality rate 10-15%

       대개 4 이전에 사망

       70% of survival - normal intelligence

                         but learning problem, seizure disorder 빈도는 높다.

       previous episodes of meningitis, ventriculitis

         --- intelligence 영향 미침

542.5 Encephalocele

      # 2 major form of dysraphism affecting the skull resulting in protrusion

         of tissue through a bony midline defect ( cranium bifidum )

       1) cranial meningcocele

          ; CSF filled meningeal sac으로 구성

             대개 good prognosis

       2) cranial encephalocele

          ; contains the sac plus cbr. cortex, cbll or portion of brain stem

            microscopic exam. abnormal neural tissue

            cranial defect -- occipital region 흔함

            aqueductal stenosis, Chiari malformation, Dandy-Walker syndrome으로

             인해 hydrocephalus risk 높다.

            denuded skin 있으면 urgent surgical management 필요

            Dx. 1. transillumination of sac

                2. plain roentgenogram of the skull & cervical spine

                   --- vertebral anatomy 확인

                3. ultrasound

                   ; most helpful in determining the contents of the sac

                   ; CT 불필요

                4. in utero age AFT ultrasound biparietal diameter

                   측정으로 진단가능

                risk ; 1. visual problem

                      2. microcephaly

                      3. M.R.

                      4. seizure

               poorist prognosis group

                 ; children with neural tissue within the sac & associated


               # Meckel-Gruber syndrome

                   1. rare

                   2. A.R. condition

                   3. occipital encephalocele, cleft lip or palate,

                      microcephaly, micropthalmia, abnormal genitalia,

                       congenital nephrosis, polydactyly & polycystic kidney 

542.6 Anencephaly

         large defect of the calvarium, meninges & scalp associated with a

         rudimentary brain (connective tissue, vessel, neurogenitalia 구성,

          Cb. Cbll 대개 없고 brain stem 일부만 남아있음 )

       원인 ; failure of closure of the rostral neuropore

         # additional anomaly

           1. folding of the scar

           2. cleft palate

           3. CHD ( 10-20%에서 )

         # incidence ; 1/1000 live birth 

         # 50%에서 polyhydroamnios 동반됨

         # prenatal monitoring in history of previous anencephaly

             1. amniocentesis

             2. AFT

             3. CHD (10-20%)

         # 원인 ; genetic basis, low socioeconomic state, nutritional &

                  vitamine deficiency, environmental & toxic factors.


542.7  Disorder of cell migration

# Severity and the extent

1. timing of particular insult

2. environmental & genetic factor of host

mechanism in control of neuronal migration

    ; radial glial fiber system

# Neural tube classification

1. ventricular zone

    ; ependymal layer

           - pluripotential, pseudostratified, columnar neuroepithelium

2. mantle zone

    ; specific neuroepithelial cells

           --> differentiate

           --> primitive neurons or neuroblasts

3. marginal zone

    ; cell in the outer layer of neuroepithelium (inner layer - cortical plate from ventricular zone)

           --> whiter matter

# Glioblasts

    ; neuroepithelial cells in ependymal zone

           --> differentiate

           --> migrate to mantle, marginal zone

           --> astrocytes, oligodendrocytes

97 종류

1. Lissencephaly

2. Schizencephaly

3. Porencephaly


; *abscence of cerebral convolutions & poorly formed sylvian fissure

; result of faulty neuroblast migration during embryonic life

; usually associated with enlarged lat. ventricles & heterotopia in white matter

Clinical Manifestation

    ; failure to thrive

  ; microcephaly

  ; marked developemental delay

  ; severe seizure disorder

  ; ocular abnormality ; hypoplasia of optic n. & microphthalmia

  ; Miller-Dieker synd

       - characteristic facies

        / *prominent forehead, bitemporal hollowing, anteverted nostril, prominent upper lip, micrognathia

    - *90% : chromosal deletion 17p

    - CT scan ; smooth brain with abscence of sulci


    ; *unilateral or bilateral clefts within the cerebral hemispheres due to an abnormality of morphogenesis

    ; microgyria 둘러 싸임

          # Cl/m

            1. severe M.R.

            2. seizure that are difficult to control

            3. microcephalic with spastic quadriparesis -- bilat. cleft

              -- CT scan ; diagnostic


; cysts or cavities within the brain result from developmental defects or acquired lesion (e.g. infartion of tissue )

542.8 Agenesis Of Corpus

    # severe intellectual &+-neurologic abnormality -- asymptomatic & normal

                           +-variation 많음            intelligence

    # early embryogenesis 동안 ant. neuropore proximity 있는 commissural

      plate insult 의함

    # brain cell migration defect 의한 anomaly(heterotopias, microgyria,

        pachygyria (broad wide gyri)) 동반시 neurologic symptom 동반

       ( M.R. microcephaly, hemiparesis, diplegia, seizure)

    # Dx. ; CT or MRI : widely seperated frontal horns with abn`l highly

                        positioned 3rd ventricle between lat. ventricle

    X-linked recessive or A.D. trait

    8 or 18 trisomy 동반잘됨

  ## Aicardi syndrome

     1. agenesis of corpus callosum

     2. female에만 나타남 9 ( X chromosomal abnormality )

     3. cl/m

       a. anticonvulsant resistant seizure ; 1st few months 나타남

          EEG finding ; independent activity recorded from both hemisphere

       b. severe M.R.

       c. abnormal vertebrae ( fused or partially developed)

       d. abnormal retina ; circumscribed pits or lacunae

                           coloboma of optic disk

542.9 Agenesis Of The Cranial Nerves

     # Mobius syndrome

       1. bilat. facial weakness, often ass. with abducence n. paralysis

       2. hypoplasia or agenesis of brain, stem nuclei & abscent or decreased

          number of muscle fibers

       3. newborn period facial weaknessaa 의한 feeding difficulty 나타남

            (poor suck)

       4. prognosis for normal development ; 대부분 excellent

  # Marcus Guhn phenomenon

     ; sucking jaw movements causing simultaneous eyelid blinking

        - abnormal innervation of trigeminal & oculomotor nn. 기인 

542.10 Microccephaly

       head circumference 해당 age, sex mean에비해 3SD이하

     # 종류

       1. primary ( genetic ) microcephaly

       2. secondary ( nongenetic ) microcephaly


       ## P 1682 Table 542-1

       1) primary microcephaly

           have no other malformation

           Mendelian pattern 따라 유전

                     or ass. with a specific genetic syndrome

       2) secondary

           result from a large number of noxious agent in utero or rapid brain

           growth period ( 1st 2 year of life )

     (2) Cl/m

        very small H.C. - embryonic feetal insult의미

        less severe microcephaly - 대개 2 이후에 나타남

        ( small H.C. 측정이 중요 )

       # Dx.

        a. microcephaly 원인을 모를 경우 mother's phenylalanine level check

        b. chromosomal syndrome 의심되거나 abnormal face, short stature

           congenital anomaly 동반시 Karyotype check

        c. skull roentgenogram, CT, MRI

        d. fasting plasma & urine amino acid analysis, serum ammonia,

            TORCH titers of mother & child, urine sample for culture of CMV

      (3) Treatement

         accurate & supportive genetic & family counseling

542.11 Hydrocephalus

     ; CSF circulation, absorption 장애나 production 증가

        ( choroid plexus papilloma ) 의함


   1) CSF 생성

    1. Ventricular system by choroid plexus (lat. 3rd. 4th)

      # lat. ventricle choroid plexus에서 대부분 생성

      # 25% extrachoroidal sources ( capillary endothelium within brain


    2. adrenergic n. system 자극시 CSF 생성 감소

       cholinergic     "       "      "    "   증가

    3. normal chi ;20ml of CSF/hour 생성

    4. total volume

          infant ; 50ml

          adult ; 150ml

  2) CSF pathway

    1. hydrostatic pressure gradient 의함

       intraventricular pressure ; 180mm of water

       sup. saggital sinus pressure ; 90mm of water

    2. lat. ventricle   ---------------->  3rd ventricle

                         (foramen of Monro)

                         ----------------->  4th ventricle

                          (aqueduct of Sylvius)

                         --------------------> cistern at brain base

                       (f. Luschka (pair lat) or f. Mageeendi (midline))

Pathophysiology & Etiology

Obstructive Hydrocephalus

  ; *common

    ; aqueductal stenosis

           - small percentage of sex-linked recessive trait

    ; aqueductal gliosis

           - after neonatal menigitis or SAH in premature infant

    ; vein of Galen malformation

    ; 4th. ventricle lesion

       - *post. fossa tumor, Chiari malformation, Dandy- Walker syndrome

Nonobstructive Hydrocephalus

    ; SAH

    ; pneumococcal & Tbc. meningitis

    ; intrauterine infection

    ; leukemic infiltration in subarachnoid space

Clinical Manifestation

# 관여하는 인자

 1. age of onset

 2. nature of lesion causing obstruction

 3. duration & rae of rise of ICP

) infant

  1. accelerated rate of enlargement of the head : most prominent sign

  2. wide open & buldging ant. fontanel, dilated scalp vein

  3. broad forehead

  4. "setting sun" eye sign

     ; impingement of the dilated suprapineal recess on the tectum

      --> eyes deviate downward

  5. long tract sign ;

      brisk tendon reflex, spasticity, clonus(특히 하지) Babinsky sign

  6. irritability, lethargy, poor appetite, vomiting

#  2) older children : more subtle sign

  1. irritability, lethargy, poor appetite, vomiting

  2. headache ; prominent symptoms in older age

  3. gradual change in personality & deterioration

     in academic productivity (slow progressive form)

  4. skull percussion cracked - pot or Macewen sign

      indicating suture seperation

  5. papilledema, abducens n. palsy, pyramidal tract sign

     ( lower ext. 에현저)

Chiari Malformation

    1) type I

           ; *displacement of the cerebellar tonsils into cervical canal

        ; *symptom during adolescence or adult life

        ; *usually not ass. with hydrocephalus

        ; Clinical Manifestation

                   - *reccurent headache, neck pain, urinary frequency, progreessive lower ext. spasticity

    2) type II

           ; hindbrain anomaly

                   - *failure of pontine flexure during embryogenesis

                           --> *elongation of 4th ventricle & kinking of brain stem with displacement of inf. vermis, pons, medulla into the cervical canal

           ; progressive hydrocephalus & myelomeningcele

    ; *10% symptom during infancy

         - *stridor, weak cry, apnea

                   - relieved by shunting or post. fossa decompression

    ; indolent form

                   - gait abnormality, spasticity, increasing coordination during childhood

       ; plain skull radiographs

            - small post. fossa & winded cervical canal

    ; CT scan eith contrast & MRI

         - display the cerebellar tonsils protruding downward into cervical canal & hindbrain abnormalities

    ; treatement - surgical decompression

Dandy-Walker Malformation

    ; *developmental failure of roof of 4th ventricle during embryogenesis

         --> *cystic expansion of 4th ventricle in post. fossa

  ; 90% hydrocephalus

     상당수에서 post. cbllar vermis & corpus callosum agenesis동반

  ; rapid increase in head, size & prominent occiput

  ; transillumination (+)

  ; long tract sign, cbllar ataxia, delayed motor & cognitive milestones

  ; 치료 - shunting the cystic cavity & ventricles in the presence of hydrocephalus

Diagnosis & Differential Diagnosis

# familial cases

    ; *X-linked hydrocephalus secondary to aqueductal stenosis

# PHx. of prematurity with ICH, meningitis, mumps encephalitis

# multiple Cafe-au-lait spots & other clinical featurees

    ; neurofibromatosis ( aqueductal stenosis )

# careful inspection, palpation, auscultation of skull & spine

   a. occipitofrontal head circumstence기록 & 측정치와 비교

   b. ant. fontanel size & configuration

   c. abnormal midline skin lesion in back ( spine dysraphism )

   d. presence of prominent forehead or abnormal shape of occiput

   e. cranial bruit ( vein of Galen malformation )

# transillumnation of skull (+)

   ( massive dilatation of ventricular systam Dandy - Walker syndrome )

# inspection of eye ground

   chorioretinitis ; intrauterine infection

   papil edema

# plain skull X-ray; seperation of suture, erosion of the post.

                      clinoidd, increased in convolutional marking

                      ( beaten - siliver app)

# CT scan or MRI along with ultrasound

      ; most importent study

# Megalencephaly

    ; secondary to thickened cranium

       - chronic anemia, rickets, asteogenesis imperfecta, epiphyseal dysplasia

    ; chronic sudural collection -- bilat. partial bone prominence

  ; metobolic & degenerative disorder of CNS

        - *lysosomal disease(e.g., Tay-Sachs, gangliosidosis), aminoaciduria(e.g., MSUD), leukodystrophies(e.g., metachromatic, alexander disease, cananvan disease)

    ; cerebral gigantism & neurofibromatosis

    ; familial megalencephaly (AD trait)

  ; hydranencephaly

           1. cerebral hemisphere

                 ; abscent or represented by membranous sacs within remnants of frontal temporal occipital cortex ( midbrain or brain stem ; 비교적 intacts )

           2. normal or enlarged head circumference at birth

               --- grow at an excessive rate  bilat. occlusion of int. carotid aa.

           3. transillumination ; abscence of cbr hemisphere

           4. Cl/m ; irritability, poor feeding, seizure, spastic quadriparesis little or no cognitive development

           5. 치료 ; VP shunts


# medical

  ; acetazolamide, furosemide

       - temporary relief by reducing the rate of CSF production

# VP shunts

  ; major Cx.

           - *bacterial infection (usually staph. epidermidis)


# 영향을 미치는 인자

 ; cause of dilated ventricles

 ( not on the size of the cortical mantle at the time of op )

# risk

   1. developmental diability

   2. mean I.Q 감소

   3. memory function 장애

   4. visual problems : strabismus, visuospatial abnormailty

          visual field defect, optic atrophy with decreased acuity

542.12 Craniosynostosis

     ; premature closure of the cranial suture

       primary - closure of one or more sutures due to abnormalities of skull


       secondary - failure of the brain growth & expansion

      # incidence of primary craniosynostosis ;1/2000 births

        10-20%에서 genetic syndrome 동반됨.

      (1) Etiology ; unknown

          abnormal development of the base of the skull

          creates exggerated forces on the dura

          ----- disrupt normal cranial suture development

                ( dysfunctional osteoblast, osteoclast와는 무관)

       (2) Cl/m & Tx.

         1) Cl/m

           1. skull deformity is evident at birth

           2. skull palpation - prominent bony ridge

           3. plain skull X-ray - fusion of suture

              ambiguous case에서는 bone scan시행


         2) 쫑류

# neurologic Cx.( hydrocephalus, IICP )

    ; 2 이상의 premature suture 동반

      operative intervention essential

   # Tx.

      a. premature fusion of only one suture

          sole Ix. for surgery

         ; cosmotic app. 위해

      b. 2 이상의 suture premature

         ; neurologic Cx. (hydrocephalus IICP) 동반 많음

         --> operative intervention essential


        ## genetic disorder ass. with craniosynosstosis


   # 동반된는 anomaly                      

     a. hydrocephalus

     b. IICP --> craniectomy 필수적

     c. papilledema

     d. optic atrophy & abn`l of optic foramine

     e. resp. problem secondary to deviated nasal septum. choanal atresia

     f. disorder of speech & deafness

Chapter 543 Seizures in Childhood

# frequency ; 4-6 case/1000 children

# seizure(convulsion)

    ; paroxysmal involuntary disturbance of brain function

       --> impairment or loss of consciousness, abnormal motor activity, behavioral abnormalities, sensory disturbance, autonomic dysfunction

# epilepsy

    ; *recurrent seizure unrelated to fever or to an acute cbr. insult



      seizure pattern,

       +---> 종류 type :+- focal        +- tonic

                           +- generalized  |  clonic

                                           |  tonic - clinic

                                           +- atonic, myoclonic


                  state of consciousness

                  aura 선행 여부 : TMC aura

                                     +- epigastric discomfort or pain

                                     +- feeling of fear




                     loss of sphinter control esp) urinary

                  postictal state

     frequency, time of day, precipitating factor.

     alteration in type of convulsive disorder


: to search for organic cause

     1. BP.

     2. growth chart ( HC, BW, length )

     3. unusual facial feature or asso. physical finding  ex)hepatosplenomegoly

     4. search for neurocutaneous disorder

     5. localizing neurologic signs

     6. unilat. growth arrest of thumbnail, hand, extrimities in a child

         with focal seizure disorder

        (porencephalic cyst, AVM, cortical atrophy in opposite hemisphere)

     7. eyegrounds ; papilledema, retinal hemorrhage, chorioretinitis, coloboma,

                    macular change, retinal phakoma

     8. hyperventilation - absence epilepsy 유발

Classification Of Seizures

Why it is important to classify the type of seizure ?

    1. clue to cause of seizure

    2. make prognosis

           ; generalized tonic-clonic seizure vs paritial

           ; infant with benign myclonic epilepsy vs infantile spasm

           ; rolandic epilepsy

Table 543-1   P 1687

543.1 Patrial seizure

; childhood seizure 40%

Simple Partial Seizure (SPS)

; motor activity

    - *common symptom

    - *asynchronous clonic or tonic movements

    - involve face, neck, extremities

; versive seizure

    - *head turning & conjugate eye movement

; *automatism do not occur

; some *aura

    - chest discomfort, headache

    - *”feeling funny” or “something crwaling inside me”

; average seizure duration

    - 10~20 sec.

# Differential Diagnosis

    ; Tics

           - *shoulder shrugging, eye blinking, facial grimacing (주로 face shoulder)

           - *can be suppressed


  - spikes or sharp waves unilat. or bilat.

    - multifocal spike pattern

Rasmussen Encephalitis

; cause of epilepsia partialis continua

; proceding nonspecific febrile illness

    --> very frequent or continuous focal seizure

; pathogenesis

    - autoantibodies --> stimulate glutamate receptor

; sequelae

    - hemiplegia, hemianopsi, aphasia


    - *diffuse proxysmal activity with slow background

; progressive, lethal

    - often self limited with significant focal neurologic deficits

Complex Partial Seizure(CPS)

; may begin with a SPS with/without aura -> impaired consciousness

Clinical Manifestation

    1. aura ; vague unpleasant feelings, epigastic discomfort, fear

       (1/3 of SPS & CPS)

    2. impaired consciousness

           - brief & infrequent

           - brief blank stare, sudden cessation or pause in activity

  3. automatisms ; 50-75% of CPS

         - older --> greater frequency

           - following loss of consciousness

           - not recalled by child

           # Infants

                   ; alimentary automatism

                           - lip smacking, chewing, swallowing, excess salivation

           # older children

                   ; semipurposeful, incoordinated, unplanned, gestural automatisms

                           - picking & pulling at clothing or in the bed sheets

                           - rubbing, caressing objects

                           - walking, running in nondirective, repetitive, fearful fashion

Secondary Generalization With A Tonic-Clonic Convuision

  ; contralateral versive turning of the head

    ; dystonic posturing

    ; tonic or clonic movements of the extremities and face

    ; average duration

           - 1~2 min


    - interictal EEG

        *ant. temparal lobe sharp or focal spikes & multifacal spikes

    interictal sharp waves or spikes originated from fronral, parietal, occipital lobes

  - normal interical EEG in 20%

           Further evaluation

                   sleep-deprived EEG study

           zygomatic leads during EEG

           proloneged EEG recording

           study of hospitalized patient weaned from anticonvulsant

; Radiologic studies

    - CT or MRI

    - temporal lobe lesion in a child with CPS

           medial temporal sclerosis


    3. postencephalitic gliosis

    4. subarachnoid cysts

    5. infarction

    6. AVM

    7. slow-growing glioma

94 Benign Partial Epilepsy With Centrotemporal Spikes(BPEC) 

; (= Rolandic epilepsy)

; excellent prognosis

Clinical Manifestation

    ; lack of neurolopathologic lesion

    ; *2-14yr

           - *peak age of 9-10yr

    ; unremarkable PHx

    ; normal neurologic exam

    ; positive FHx of epilepsy

    ; seizure

       - partial, motor sign, somatosensory symptoms

           - *attack during sleep (75%)

           / cf. CPS : during waking hours

    ; oropharyngeal symptoms

        - tonic contractions & paresthesia of tongue, unilat. numbness of cheek (paricularly along gum), guttural noises, dysphagia, excessive salivation

    ; unilateral tonic-clonic contracture of lower face accompaning oropharyngeal symptoms

           - as do clonic movement or paresthesia of ipsilateral extremities

    ; consciousness

           - intact or impaired

    ; *may proceed to secondary generalization of partial seizure

    ; mostly infrequent seizure

       - 20% only 1 seizure

       - 25% repeated clusters of seizures


    ; diagnostic

  ; *repetitive spike focus localized in centrotemporal or Rolandic area with a normal background activity


    ; carbamazepine

           - *at least 2yr or until 14-16

543.2 Generalized Seizures

Absence Seizure

(=Petit mal ; simple absence)

# Characteristics

    ; sudden cessation of motor activity

    ; speech with a blank facial expression & flickering of eyelids

    ; uncommon prior to 5yr

    ; more prevalent girl

    ; *never asso. with aura

    ; rarely persist longer than 30sec

    ; *not asso. with postictal sleep

Clinical Manifestation

    ; *not lose body tone, but head may fall forward slightly

    ; *frequently automatic behavior

    ; hyperventilation for 3-4 min

           --> induce seizure

    ; complex absence seizures

       - motor components

                   / myoclonic movement of face, fingers, extrem. & occasionally loss of body tone

           - *atypical EEG spikes and wave

                   / 2-2.5/sec


    ; *typical 3/sec spike & generalized wave discharge

Generlized Tonic-Clonic Seizure

   extremely common

   secondary generalization 있다.

  1) Cl/f

    1. aura ; epileptiform discharge focal origin suggest

    2. tonic contractions ->sudden loss of consciousness, eye roll back, apnea

         with cyanosis

    3. clonic phase ; rhythmic contraction


    4. postictal state

        semicomatose & deep sleep ; 30 - 2시간

        vomiting, severe bifrontal headache

           loss of sphincter control (esp. bladder) 흔함.

  2) Management

    1. tight clothing, jewelry arround neck - 느슨하게 풀어줌.

    2. place on one side

    3. neck & jaw ; gently hyperextension

    4. mouth should not be opened forcibly by an object or finger

  3) neurologic finding during seizure or immediately postictally

    1. truncal ataxia

    2. hyperactive DTR

    3. clonus

    4. Babinski reflex

  4) precipitating factor

    1. low - grade fever asso. with infections

    2. excessive fatigue or emotional stress

    3. drug ; psychotropic medications

             theophylline, methylphenidate

Myoclonic Epilepsies Of Childhood

   * 특징 ; repetitive seizure consisting of brief, often symmetric muscular

           contraction, loss of tone & falling or slumping foward

           ---- injury to face & mouth

## subgroups

(5) [A] Benign myoclonus of infancy

     1) Cl/f

       1. onset during infancy

       2. clusters of myoclonic movement - neck, trunk, extrimity

     2) EEG ; normal ( cf. infantile spasm)

     3) Px. ; good with normal development & 2 세경까지 stop.

             치료는 필요하지 않다.

     4) familial A.D form ; chromosome 2D 위치

   [B] Typical myclonic epilepsy of early childhood

     1) Cl/f

       1. onset age ; 2 ½세 (6mon-4)

       2. frequncy ; 다양

       3. febrile convulsion or GTC seizure 선행되는 경우도 있다.

       4. 1/2 ; tonic-clonic seizure 동반

       5. 1/3 ; FHx. of epilepsy (+)

     2) EEG ; fast spike wave complex 2.5Hz & normal back-ground rhythm

     3) Px.

       1. relatively favorable

       2. 소수에서 M.R. 동반

       3. 50%이상에서 수년후 seizure free

       4. 상당수에서 learning, language problem & emotional, behavioral disorder


  [C] Complex myoclonic epilepsy

   1) Cl/f ; poor Px

     1. 1st. year focal or GTC seizure --> myoclonic epilepsy

     2. URI or low grade fever 동반된 generalized seizure

                                  -->status epilepticus develop잘됨

     3. 1/3 ; delayed developmental milestones

     4. perinatal period HIE history & generalized UMN & extrapyramidal sign

         with microcephaly 흔함.

     5. epilepsy family Hx. typical myolonic epilepsy 비해 드물다.

## * Lennox Gastaut syndrome

    ; combination of frequent myclonic & tonic seizures

     EEG - interictal slow spike waves

     2) EEG ; interictal slow spike waves

     3) Px.

       1. refractory to anticonvulsants

       2. 75%에서 M.R. & behavioral problem 동반

Juvenile Myoclonic Epilepsy

  ; 5% of epilepsies

    ; gene locus on chromosome 6 p

    ; Clinical Manifestation

           - onset age ; 12-16

    - *frequent myoclonic jerk upon awakening

            / *오전중 myoclonus 사라짐

    - *수년뒤 early morning GTC seizure asso. with myoclonus

           - normal neurolgic exam.

    ; EEG

       - 4-6/sec. irregular spikes & wave pattern

                   / *enhanced by photic stimulation

    ; Treatment

           - *Valproate

                   / dramatic responsive

                   / life-long

    - drug 끊으면 재발 많다

Progressive Myoclonic Epilepsy

      종류; Lafora disease, myoclonic epilepsy with ragged red fibers(MERRF),

          sialiosis type 1, ceroid lipofuscinosis,

          jurenile neuropathic Gaucher ds, jurenile neuroxinal dystrophy

         ---> rare genetic desorders, with grare Px.

     1) Cl/f


      2.GTC seizure 시작 --> 결국 myoclonic jerk으로 변화

      3.mental deterioration

         특징적 seizure onset 1년내 발생

      4.neurologic abnormalites 특히 cerebellar & extrapyramidal signs 두드러짐.

    2) EEG

       ; polyspike-wave discharges esp) in occipital regin

         with progressive slowing & disorganized background

     3) Lafora ds (A.R. disorder)

        Dx ; skin biopsy - 특징적인 periodic

             acid-schiff positive inclusions 발견

             eccrine sweat-gl duct cell 명백

     4) Tx ; control 하기 어려움

             valproic acid + benzodiazepine combination


             - ganeralized seizure control 유효.

(4) Infantile spasm

   1) Cl/f

     1. onset age ; 4-8months

     2. brief symmetric contractions of neck, trunk, extremities

     3. 3 types

       flexor spasm ; sudden flexion of neck, arms, legs onto trunk

       extensor spasm -- least common form, extension of trunk, ext

       mixed spasm -- most common form

     4. seizure 수분간 지속되고 spasm 사이 brief interval

     5. cry - spasm 전이나 후에 동반

     6. occur during sleep or arrousal, tendency to develop while drowsy

        or immediately upon awakening

(5) Landau - Klaffner syndrome(LKS)

   rare unknown eti.

   more common in boys (평균 연령 5.5)

   1) Cl/f

     1. loss of language skills in a previously normal child

       70% seizure disorder 연관

       language regression -> aphasia

       auditory agnosia (+), hear : normal

     2. behavioral problems : irritability, poor attention span

        but normal performance test, visual-spatial skill

     3. seizure ; several types: focal, GTC, atypical absence, paritial complex,


     4. EEG

       high-amplitude spike & wave discharges in bitemporal

           - mutifocal a generalized 가능

       normal 일수도 있다.

       non-REM sleep 나타남

          ( LKS-EEG sleep check)

     5.  CT,  MRI ; normal

         PET scan ; unilat or bilat,  hypo or hyper metabalism

         minimal gliosis 소견 보임.

     6. Tx

       valproic acid - choice

       some ; V.A + clobazam combination 필요

       seizure + aphsia 지속 - steriod 사용

           ; oral prednisolone 2mg/kg/24hr for 1Mo

            -> tapering to 1mg/kg/24hr for 1Mo

            -> 0.5mg/kg/24hr for 6-12Mo

       speech Tx & 유지 요법  수년간 지속

       수술요법 ; subpial transection

                    medical management 실패시 시행

       methylphenidate ; hyperactivity & imattention 심할때 사용

    7. Px

     ; 대부분 significant abnormality of speech function 가짐.

        onset of LKS at earyl age (< 2yr )

        - speeah recovery 대한 poor prognosis 가짐

   2) EEG

     1. Hypsarrhythmia

       ; chaotic pattern of high-voltage, bilaterally asynchronous.

        slow-wave activity

     2. modified hypsarrhythmia pattern

   3) classification (2 groups)

     1. crypotogenic (10-20%)

       uneventful preg. & birth Hx.

          & seizure onset 이전 normal development

       neurologic exam. & CT scan of head ; normal

          & no asso. risk factors

       good prognosis

    2. symptomatic

      a. prenatal & perinatal factors

        HIE. & periventricular leukomalacia

        congenital infection

        inborn error of metabolism

        neurocuaneous syndrome     e.g)tuberous sclerosis

        cytoarchitectual abnormality ( lissencephaly, schizencephay )


      b. postnatal factors

        CNS infection

        head trauma ( subdural hematoma & IVH )


        과거 pertussis vaccine 연관성

                    -> 현재 원인인자로서 immunization 과는 무관하다고 여김

      c. Px. ; 80-90% M.R. 동반

             ( underlying CNS disorder - 예후에 관여 )

   4) Pathogenesis

     1. dysfunction of monoaminergic neurotransmitter system in brain stem

     2. derangement of neuronal structures in brain stem

     3. abnormality of immune system

     4. 최근 CRH -> ACTH 분비 -> glucocorticoid


          specific stress a injury inhibition

        -> CRH overproduction -> +- neuronal hyperexcitability    -> 점차 감소

                                 +-  seizure 유발              

                                  (특히 infact ; CRH- max.)

   5) Tx. ; ACTH & glucocorticoix -> CRH 억제


figure  543-1        p 1689


# Mechanisms of seizures

- excitatory a.a neurotransmitters (glutamate, aspartate) neuronal excitation

   중요한 역할 

  neuronal death area 에서 발생

- Kindling phenomenon

  ; repeated subconvulsive stimulation of brain

   -> generalized convulsion 유발

- age-specific seizure    e.g) infantile spasm

  ; underdeveloped brain more susceptible

- genetic factors ; 최소 20% 연관성

   +- benign neonatal convulsion (20q)

   |  juvenile myoclonic epilepsy (6p)

   +- progressive myoclonic epilepsy (21q 22.3)


- substantia nigra immaturity seizure 대한 감수성 증가와 연관

  ; GABA-sensitive  SNR neuron seizure preventing


- 그외 neuronal hyper excitability, inhibitory mechanism, nonsynaptic mechanisms

  of seizure    propagation, GABA- abnormalities 관련

543.3  Febrile Seizures

; age dependent

    - *rare prior to 9 mo and after 5yr

    - *peak 14-18 mo

; incidence

    - 3-4% of young children

; strong FHx.


    ; *arginine vasopressin

           - important mediator in pathogenesis in animal studies

Clinical Manifestation

    ; typically GTC

           - a few seconds to 10 min

    - *brief postictal period of drowsiness

    ; cause of fever

           - viral infection of upper resp. tract, reseola, acute O.M.

    ; *lumber puncture indication ; meningitis 의심될 반드시 시행

# EEG indication

  ; atypical febrile seizure

       - persisting seizure for more than 15min

           - repeated convulsions for several hours or days

           - focal seizure

# Risk For Development Of Epilepsy

  ; FHx. of epilepsy

  ; initial febrile seizure prior to 9 mo

    ; prolonged or atypical febrile seizure

           - 15min 이상

           - focal seizure

           - 하루 1회이상, 1년에 5회이상

    ; delayed development

  ; abnormal neurologic exam.

  --> 9% incidence of epilepsy (cf. no risk group : 1%)

# recurrent rate ; 50%


; prophylaxis 필요하지 않다.


<신판에 없는 내용>

 * oral diazepam ; effective & safe method of reducing risk of reccurance

   of febrile seizure

   방법 ; febrile illness onset

          0.3mg/kg    8hr po. (1mg/kg/24hr) for 2-3days

      +- phenytoin, carbamazepine ; no effect

      +- sodium valproate ; effective

Diagnosis Of Seizures

Minimum Workup For First Afebrile Seizure In Healthy Child

     1. FBS

     2. electro (Ca., Mg. )

     3. routine.EEG (interibtal EEG;epilepsy 40%에서 normal)

         -> actiration procedure 시행

Prolonged EEG Monitory With Simultaneous Closed-Circuit Video Recording

# Indications

    ; complicated patients with protracted and unresponsive seizures

    ; *patients with pseudoseizures

CT scan or MRI

; controversial

; chronic seizure disoder 30%에서 structural abnomality동반

# indication of neuroimaging studies

             ; intracranial lesion의심되는 경우 or abnormal neurologic exam.

     1. prolonged partial seizure

     2. intractability to anticonvulant therapy

     3. focal neuroligic deficit

     4. evidence of HCP

CSF exam

     Ix. 1. seizure related to infectious proc.

        2. seizure related to SAH

        3. seizure related to demyelinating desorder

543.4  Treatment Of Epilepsy

Table 543-2

Table 543-3

# first step

  ; *ensure that patients has a seizure desorder

  ; Antiepileptic drug 사용 보류하고 기다려야 하는 경우

       ; +- previous healthy child

         |  first afebrile convulsion

         |  (-) family Hx.

         |  normal neurologic exam.

         +- normal EEG

# second step

  ; *choice of anticonvulsant

     - seizure chassification 따라

     - 1 drug으로 seizure control

   * teratogenic effect

      phenytoin     ---+

      valporic acid    +-  facial, limb anomaly, spinal dysraphism

      carbamazepine    |

      primidone     ---+

# if complete seizure control & no risk factors

    ; *minmum of two seizure-free years

# Prominant Recurrence Risk Factor

    ; greater than 12yr at onset

  ; neurologic dysfunction (motor handicap or mental retardation)

  ; history of prior neonatal seizures

    ; more than 21 seizure before anticonvulsant Tx

# seizure complete control for 2yr & low risk factor

    ; *20-25% recurrence rate during first 6mo

           --> weaning process for 3-6mo

# ㉿약물의 일반 치료 원칙

    ; 한글판 p753


     *generalized, partial seizure 사용됨

     *follow up

       1.CBC with diff.--+

       2.GOT, GPT   -----+--  q 1 month

          leukopenia, hepatotoxicity때문

    ; 95 EM contraindication

           - compete for metabolism by liver

           - *toxicity due to carbamazepin 10, 11 epoxide

    ; lowed plasma conc. by phenytoin, Pb, valproate

    ; half life - 8-20 hrs. (#2#3)


   * add-on drug for refractory complex-partial

        & secondary generalized T-C seizure

   * GABA turnover

   * no significant drug interaction

      비교적 dose-related CNS adverse effect (-)

   * 12yr 이상 소아, 300 mg/24hr 시작

       -> 35 간격 300mg 증량

       -> total dose 900-1200mg/24hr 까지 (#3)

           adult ; 2400mg/24hr (max.)

     *S/E ; somnolence, dizziness, ataxia, headache, tremor, nausea, vomiting,

            nystagmus, fatigue

Phenobarbital & Primidone

     * 비교적 안전

     * GTC seizure

     * 25% - severe behavior change , 그외 drowsiness, drug rash

       Pb : cognitive function 장애 유발

            (greater risk; neurological abnormal children) 

     * Pb plasma level 높이는 drug ; sodium valproate, phenytoin


    ; S/E

           - rashes, *Steven-Johnson syn., lymphadenopathy, *lupus-like ds., gum hyperplasia, *hirsuitism, megaloblastic anemia, polyneuropathy, rickets

Sodium Valporate

; useful for GTC, abscence, atypical abscence, myoclonic seizre

; S/E

    - mild G-I disturbance, alopecia, tremor, hyperphagia

  - rare serious S/E

       / *Reye-like synd.

                   : *progressive lethagy & coma, serum NH3,carnitine

    / idiosyncratic hepatotoxic synd.

                   : abdominal pain, anorexia, weight loss, retching within a few weeks to months of begining therapy

                   : *normal liver function test

                           --> *치료시작후 수개월이내에 significant, persistent GI symptoms 있으면, 주의해야 한다.

  - behavioral change / rare

    - *decrease in serum-free carnitine levels by inhibition of plasmalemmal carnitine uptake

           / some studies

                   : major causes of hepatotoxicity

; L-carnitine supplement

    - Indication

           / clinical symptoms suggestive of carnitine deficiency

                   : weakness, letheragy, hypotonia

           / significant decrease in serum-free carnitine levels


     * infantile spasm 70%에서 효과

     * Pd 같은 효과(+)

     * common schedule ; ACTH 20 u IM daily for 2 weeks

            - no responce 30-40 u for 4 weeks (dose increase)

            - no responce oral prednisone 2mg/kg/d for 2 weeks

            - no responce ora; prednisone 2mg/kg/d for 4 weeks

     * side effect

       ; hyperglycemia, HT, electro. abnormality, GI disturbance, infection,

          transient brain shrinkage(CT)

     * medication 대한 responce 대개 주내 나타남

     * no relationship - ease or degree of seizure control & ultimate neurologic

        & cognitive outcome

     * ACTH, prs D/C 1/3에서 재발

Ketogenic Diet

; CHO감소, protein감소, fat증가

; recalcitrant seizures

    - particularly complex myoclonic epilepsy with associated tonic-clonic convulsion

; effect

    - *increasing the inhibitory neurotransmitter GABA


   : intractable seizures unresponsive to anticonvulsant

    adult with longstanding seizure with focal onset 특히 focal seizure

  * preop. study

    1.EEG : critical

    2.WADA test

    3.single photon emission computed tomography (SPE4CT)

    4.positron emission tomography scan (PET)

    5.CT, MRI

Counseling The Parents

; encouraged to treat the child as normally as possible

; no restriction of physical activity

    - *bathing or swimming시에는 동반해야 한다.

543.5 Neonatal Seizure

; dissimilar from child or adult

    - *rare GTC seizure

    - why?

           / *incomplete arborization of axon & dendritic process and myelination

Clinical Manifestation & Classification

1) focal seizure (=focal clonic seizure)

    ; rhythmic twitching of muscle groups (extrem. & face)

  ; localized structual lesion, infection, SAH 관련

2) multifocal clonic convulsion

  ; focal seizure 유사하나 multiple muscle groups involve

   (주로 Ca, Mg감소시 호발)

3) tonic seizure : intraventricular hemorrhage 특징적 소견. 예후 나쁨

     rigid posturing of extrem. & trunk

     fixed deviation of eyes

4) myoclonic seizure (1 또는 여러번 jerk movement)

   brief focal or generalized jerks of extrem. or body that tend to involve

    dist. muscle groups

5) subtle seizure

  chewing motion, excessive salivation, alteration in resp. rate(apnea),

   blinking,nystagmus, bicycling or pedaling movement, change in color

# DDx From Nonepileptic Movement

    ; tachycardia, elevation of BP 동반

    ; no suppression by gentle restraint

    ; no influence by sensory stimuli

EEG Classification Of Neonatal Seizures

Clinical Seizure With A Consistent EEG Event

Clinical Seizure With A Inconsistent EEG Event

Electrical Seizure With Absent Clinical Seizures

Etiologic Diagnosis


    ; HIE

           - *common cause

    ; infection

           - bacterial meningitis, aseptic encephalitis, TORCH infection

    ; hypoglycemia or hyperglycemia

    ; hypocalcemia

    ; hypomagnesemia (<1.5mg/dl)

           - 0.2ml/kg 50% solution of MgSO4 im

    ; hyponatremia (<135mEq/L)

    ; hypernatremia (>150mEq/L)

    ; inborn error of metabolism

    ; unintentional infection of a local anesthetic into fetus during labor

    ; pyridoxine dependency

    ; drug withdrawal seizures

           - barbiturate, benzodiazepines, heroin, methadone

    ; neurocutaneous disorder

           - tuberous sclerosis, incontinentia pigmenti

    ; cytoarchitectural abnormality of brain

           - lissencephaly, schizencephaly, neonatal adrenoleukodystrophy

    ; chromosomal disorder


# careful neurologic exam.

# P/E

  ; eye (retina)

       - chorioretinitis - TORCH infection

    - coloboma of iris & retinal lacunae

                   --> Aicardi syndrome

           / female

                           / coloboma of iris, retinal lacunae, refractry seizure, abscence of corpus callosum

    ; skin

       - hypopigmented lesion --> tuberous sclerosis

    - crusted vesicular lesion --> incontinentia pigmenti

    ; unusual odor

           - inborn error of metabolism

# electrolyte & blood sugar (Ca, Mg, Na)

# lumbar puncture

    ; metabolic disorder 인한 경우 제외하고는 모두 시행

# serum ammonia

    ; urea cycle abnormality

# urine organic acid

    ; methylmalonic or propionic acidemia

# 2,4-dinitrophenylhydrazine

    ; MSUD


    ; metabolic acidosis


# long-chain fatty acid

# Karyotype

Injection Of Local Anesthetics

  1) Cl/f  1.intensive tonic seizures

           2.flaccid at birth

           3.abnormal brain stem reflex

           4.resp. depression

  2) Dx.

    1.needle puncture of skin or perforation or laceration of scalp관찰

    2.increased serum anesthetic level

  3) Tx ; supportive

     iv fluid - urine output증가 (fluid overload방지)

Pyridoxine Dependency


 1) Cl/F

   1.generalized clonic seizure begin shortly after birth with signs of fetal

      distress in utero.

   2.conventional anticonvulant resistant

 2) Dx

    1.100-200mg pyridoxine iv - seizure stop & 수시간내 EEG 정상화

    2.CSF & plasma pyridoxal-5-phosphate 측정

 3) Tx

    10mg/day oral pyridoxine(life-long)

    치료 안하면 persistent seizure & severe M.R.


 poor Px  ;  72시간 이상 지속된 seizure

             consistently slow heart rate

 good Px  ;  early onset

             brief duration

             동반 질환 X (선천성 동반 질환 -)

             (tremors/ jitteriness) occuring during 1st day of life


; anticonvulsants

    - phenobarbital, diazepam

; greater use of EEG

    - *seizure discharge 무관한 abnormal movements 치료하지 않는다.


; *mainly depends on primary cause of disorder or severity of insult

# Excellent Prognosis 

  ; hypoglycemia infant of DM mother

  ; hypocalcemia asso. with excessive phosphate feeding

# Poor Prognosis

  ; severe HIE

  ; cytoarchitectual abnormality of brain

543.6 Status Epilepticus

; continuous convulsion lasting greater than 30min


# 3 major subtypes in children

    1) prolonged febrile seizure

       ; particularly less than 3yr

           ; *common cause of status epilepticus

    2) idiopathic status epilepticus

           ; no underlying CNS lesion or insult

    3) symptomatic status epilepticus

        ; seizure asso. with a longstanding neurologic disorder or metabolic abnormality

           ; higher mortality than 1),2)

# causes

  1) severe anoxic encephalopathy

  2) encephalitis

  3) long term Cx. of menigitis

  4) congenital malformation of brain

  5) inborn error of metabolism

           ; progressive loss of consciousness, failure to thrive, excessive vomiting

  6) electrolyte abnormality

           ; hypocalcemia, hypoglycemia

   drug intoxicatin, Reye syndrome, lead intoxication

   extreme hyperpyrexia, brain tumor (frontal lobe)


 성인보다 neuronal injury 초래하는 시간 짧다.

 most vulnerable areas of brain ; hippocampus, amygdala, cerebellum,

                               middle cortical area, thalamus

 병리소견 ; venous congestion, small petechiae, edema

          ischemic cellular change - 조기 소견

# Transitional Period

    ; *irreversible neuronal change발생하는 critical period 

           - 동물 / 20-60

           - 인간 / unknown


Initial Management

1.assessment of the respiratory & CV systems

   i. AW유지

   ii. pulse, temp, resp, BP 측정

2.excessive oral secretion제거 - gentle suction

3.face mask O2 공급

   - intubation & assisted ventilation

4.iv line 확보

5.hypoglycemia rapid infusion of 5ml/kg of 10% dextrose

6.sampling ; CBC, electrolytes, glucose, creatinine, anticonvalsant

            level, ABGA, blood & urine for toxicology

            ( amphetamines, cocaine, phenothiazine,

             TCA, theophylline in toxic level)

7. continuous EEG monitoring Ix.

    i.anticonvulsant refractory seizure

   ii.paralyzed patients


8. physical & neurologic exam.

  i.trauma evidence

 ii.papilledema/bulging ant. fontanel/lateralizing neurologic signs - IICP

 iii.manifestation of sepsis, meningitis

 iv.retinal hemorrhage - subdural hematoma

 v.Kussmaul breathing & dehydration - meta. acidosis

    irregular respiration - brain stem dysfunction

 vi.failure to thrive, peculiar body odor, abnormal hair pigmentation

       - inborn error of metabolism

 vii.constriction or dilation of pupils - toxin, drug

9. neuroradiologic study


; always IV

Diazepam or Lorazepam

    ; initial drug

    ; diazepam

           - 0.3 mg/kg iv (max. 10mg at a rate no greater than 1mg/min.)

           - barbiturate 병용시 resp. depression & hypotension

    - tonic-clonic status 효과적

           - long acting anticonvulsant 병용

    - 단점

                   / short half-life

    ; lorazepam

       - equally effective short-term anticonvulsant

     greater action duration

     Hypotension & resp. arrest 빈도는 낮다.

   ii. 0.05-0.1 mg/Kg slow iv

     0.05-0.1 mg/Kg PR

     0.05-0.1 mg/Kg sublingual


     1. loading dose ; 15-20 mg/Kg iv

          rate ; 1 mg/Kg/min

     2.half or normal saline mix (form a precipitate in glucose solution)

     3.maintenance dose (seizure stop)

        5-8mg/Kg/day #2 equal dose 12-24 hour 부터


        i. dilution않으면 pain, irritation, phlebitis of v.

        ii. arrhythmia, EKG monitoring 필요 (loading)


     1.loading dose ; 10-15mg/Kg iv

            (neonate ; 20mg/Kg iv during 10-30 min)

     2.maintenance dose ; 3-5 mg/Kg/day #2 equal dose


no IM or rectal

      1.비교적 safe drug

      2.5% solution (1.75ml paraldehyde + 5% DW mix total volume 35 ml)

                   - glass bottle

      3.loading dose ; 150-200mg/Kg iv for 15-20 min

      4.maintenance dose ; 20mg/Kg/hr (5% D/W mix) - infusion

Diazepam Constant Infusion

    ; considered rather than paraldehyde

           - 특히 initial diazepam 효과 있었던 경우

    ; dilution of 0.04mg/ml (sterile water, normal saline, Ringer's lactate)

  ; flow rate ; 2-3mg/hr

Pentobarbital Coma

(phenobarbital coma상태 유지 시킴)

       = phentotal마취유도제

     1.ventilator, continuous EEG monitor

     2.iv loading dose ; 3-5 mg/Kg  - 2-3mg/Kg/hr  (serum level;25-40ug/ml유지)

     3.D/C Ix ; 최소 48시간 이상 EEG에서 burst-suppression pattern

     4.S/E ; HoT, electro. abnormality

General Anesthesia

      1.conventional drug therapy pentobarbital coma 효과 없는 경우

      2.halothane, isoflurane

      3.작용기전 ; reversing cbr. anoxia & meta. abnormality

                  - allowing the previously administered anticonvulsant to exert

                    their effect

      4.단점 ; anesthetic gas scavenging system있는 O.R.에서 오랜기간

Sodium Valproate

 ; parenteral 사용 X  popr  -> Reatal 사용해야함.

         sodium valproate syrup (50mg/ml) - diluted 1:1 with tap water

                -- loading dose ; 20mg/Kg retention enema

    * Status epilepticus anticinvulsants duration

        1.progressive neurologic disorder or with a history of recurrent seizure

           - long term anticonvulsant therapy

        2.initial attack of idiopathic status epilepticus(특히 prolonged febrile

            seizure) - 3개월간 maintain symptom없으면 D/C


   * mortality rate : 5%

   * long term sequelae : 1 이하에서 more common


      2.extrapyramidal syndrome



Chapter 544. Conditions That Mimic Seizures

Benign Paroxysmal Vertigo

; in toddler, rare beyond 3yr

Clinical Manifestation

    ; sudden attacks

           - *ataxia, fall or refuse to walk or sit

           - *horizontal nystagmus

    ; frightening, pale

    ; nausea, vomiting

    ; *not disturbed consciousness, ability to verbalize

    ; lack of lethargy or drowsiness at completion of episode

  ; variable duration, frequency, intensity

  ; *susceptible to motion sickness & develop migrane headache several yr later

    ; normal neurologic exam

           - except) abnormal vestibular function detected by ice water caloric testing

    ; normal audiogram, EEG


    ; dimenhydrinate(=Dramamine)

           - 5mg/kg/24hr

           - Max. 300mg/24hr PO IM IV or PR

Night Terrors

  1) age ; 5-7, boy -> 반면 night mare 여아에 호발

  2) incidence ; 1-3% of children

  3) cl/f   1.sudden onset between midnight & 2:00 AM

             during stage 3 or 4 of slow wave sleep : non REM sleep stage III-IV

            2.scream & appears frightened, dilated pupils, tachycardia,


            3.little or no verbalization

            4.심하게 몸부림치고 주위를 의식 못함

            5.다음날 아침 - total amnesia

            6.somnambulism (1/3) 동반가능함

  4) Tx ;

     1.underlying emotional disorder찾기 (stress 주원인이다)

     2.short course of diazepam or imipramine

Breath-Holding Spells










 안전한 곳에 방치

 /부모를 안심시킴


 epileptic discharge(+)




 #  (1) Cyanotic spells

     * usually predictable

     * provoked by upsetting or scolding on infant

        1)age : 6month 이전에는 드뭄

                peak : 2 (5 이후에는 사라짐)


           1.brief, shrill cry - forced expiraton & apnea

           2.rapid onset of generalized cyanosis & loss of consciousness

           3.asso. with repeated generalized clonic jerks, opisthotonus,


           4.항상 stereotyped

           5.normal interictal EEG

       3) management : support & reassuarance of parents

     (2) Pallid speels

          much less common than cyanotic spells

       1) cl/f : 1.typically initiated by painful experience

                 2.stop breathing, rapidly loss of consciousness

                    - pale, hypotonic, tonic seizure   

                 3.bradycardia with periods of asystole of longer than 2 sec.

                 4.normal interictal EEG

                 5.유발방법 : occular compression - oculocardiac reflex

                    by afferent stimulation of trigeminal n. & by efferent

                    inhibition of heart by way of vagus n.

        2) Tx : 1.conservative treatment

                2.oral atropine sulfate 0.01mg/kg/24hr divided doses

                  (max : 0.4mg/day)

                  - refractory case에서 사용


Simple Syncope

 : 10-12 이전에는 드물고 adolescent female 흔함

    1) pathophysiology:  systemic hypotension

                        decreased cerebral blood flow down

                        alteration in brain metabolism

    2) cl/f : 1.decreased blood flow -> loss of consciousness

              2.ischemia -> neuronal discharge from reticular formation

                 -> brief tonic contractions of muscles of face, trunk, extrem.


              3.during episode : fixed upward deviation of eyes

     3) precipitating factor

         pain, fear, excitement, extended periods of standing still

         (특히 warm environment에서) -> vasovagal sti.

     # Tilt-table testing

         -> Sx유발 with hypotension (+) -> oral β-blocking agent 반응

     # DDx with seizure

        short duration

        ass. Sx (nausea, perspiration)

        complete orientation following event

     4) EEG

          transient slowing during attack (no seizure discharge)

Cough Syncope

: asthmatic children에서 가장 흔함

     1) Cl/f

       1.shortly after the onset of sleep & coughing paroxysm abruptly awaken

            the child.

       2.plethoric face. perspires. - agitated. frightened

       3.loss of consciousness, generalized m. flaccidity, vertical upward gaze,

          clonic m. contractions lasting for several seconds.

       4.urinary incontinence (+)

       5.수초내 recovery, 수분내 의식 회복

       6.심한 기침외에는 기억 못함


          cough -> increased intrapleural pressure

                -> decreased venous return

                -> decreased Rt. ventricular output

                -> decreased left ventricular filling

                -> decreased CO

                -> decreased cbr. blood flow & cbr. hypoxia

                -> loss of consciousness

       3) Tx : bronchoconstriction 예방

The Prolonged QT Syndrome

     1) cl/f

         1.sudden loss of consciousness during exercise or emotional & stressful


         2.typically onset in late childhood or adolescence

         3.syncope period cardiac arrhythmia발생

           특히 ventricular fibrillation -> 수분내 회복 or 사망

      2) EKG : prolongation of QT interval d/t abnormal lengthening of QT

               interval (corrected QT > 0.48)

       3) 2 varieties

        acquired heart disease : myocarditis, MVP, electrolyte abnormalities,


        congenital forms

            i) A.R. trait ass with deafness

            ii) A.D. : genetic marker - chromosome 11p 위치

       4)family members of pt. : 12 EKG check

       5)Tx :  β-blocker

               exercise restriction


Paroxysmal Kinesigenic Choreoathetosis

   1. sudden onset unilat. or bilat. choreoathetosis or dystonic posturing of

         a leg or arm & ass. facial grimacing, dysarthria

   2.precipitated by sudden movement,

     특히 arising from a sitting position or exitement & stress

   3.1 이상 지속 드묾, 의식소실 동반 안함

   4.onset age: 8-14 (2세에 시작 가능)

   5.neurologic exam, EEG, neuroimaging study : normal

     neuropathologic study : 일부에서 abn'l

   6.familial : A.R. inheritance

   7.Px : Anticonvulsant (phenytoin)으로 예방 가능 -> 성인이 되면서 점차 감소       

Shuddering Attacks


  1.age : 4-6mo. onset -> 6-7세까지 지속

  2.sudden flexion of head & trunk & shuddering or shivering movement

    :마치 찬물을 등에 부었을 때와 유사, 100attacks/day -> Sx free weeks가능

  3.precursor of benign essential tremor

Benign Paroxysmal Torticollis Of Infancy

  1.recurrent attacks of head tilt asso. with pallor, agitation, vomiting

  2.onset : 2-8month  -> 2-3세에 spontaneous remission

  3.abnormalities in vestibular function,

    resist passive head movement, 의식소실(-)

  4.later childhood migraine develop되기도

  5.persistent torticollis : cervical vertebra abnormalities

     (D/C or fracture검사) tumor on in post. fossa

Hereditary Chin Trembling

  1. repeated episodes of rapid 3/sec chin trembling movements

  2. precipitated by stress, anger, frustration

  3. A.D trait

  4. neuro. exam. & EEG : normal

Narcolepsy(수면 탈작) & Cataplexy(탈력 발작)

 1) narcolepsy

   1.rarely begins before adolescence

   2.paroxysmal attacks of irrepressible sleep

   3.EEG : recurrent sleep attacks consist of REM sleep

   4.Epilepsy와의 DDx : easilly aroused & become spontaneously alert

      (Epilepsy : deep sleep, postictal drowsy, lethargy, headache)

 2) cataplexy

   1.narcolepsy with transient loss of muscle tone & fall to floor because of

        laughter, stress, frightening experience

   2.의식 소실 없음


   1.scheduled naps (계획적인 수면:낮잠)

   2.amphetamine, methylphenidate, TCA


Rage Attack Or Episodic Dyscontrol Syndrome

  1.confused with complex partial seizures

  2.sudden & recurrent attacks of violent

     physical behavior with minimal provocation(kicking, scratching, biting,


     - fatigue, amnesia & sincere remorse

  3.EEG during attack : normal -> attack당시 EEG 정상인것으로 complex partial

       seizure 감별한다.


(self-stimulation behavior)

   - female : 2 Mo-3yr

   - repetitive stereotyped episodes of tonic posturing asso. with copulatory

     movements without manual stimulation of genitalia

  - sudden becomes flushed & perspires, frunt, breathe irregulaly, 의식소실없음

  - sudden onset, 몇분(드물게 수시간)지속, 대개 stress

  - sexual abuse or perineum abnormalities검사

  - Tx : Reassurance, 3세경까지 소실


  age: 10-18

  m<fe, neurotic personality

  occurs in many patients with past Hx of epilepsy & in some with ongoing true


 # *epilepsy와의 감별점

      1.no cyanosis

      2.normal pupil reaction to light

      3.no loss of sphincter control

      4.normal plantar responses

      5.absence of tongue biting or injury during attack

      6.EEG : excess of m. artifact during attack but normal background rhythm

             devoid of seizure discharges (=epileptic discharge없음)

      7.pseudiseizure serum prolactin level

          - no change (epilepsy:significant increase)

Chapter 545. Headache


# Etiology of headache in children



.psychogenic or stress headaches

4.refractive errors


- 6.sinusitis

7.malocclusion of teeth

545.1 Migraine

; *important & frequent type of headache in pediatric population

# Definition

    ; recurrent headache attack with Sx-free interval & at least 3 of following symptoms

           - abd.pain, N/V, throbbing headache, unilat. location, associated aura, relief following sleep, FHx(+)

# incidence

    ; among school-aged children (7-15) : 4%

  ; adolescence : female > male

  ; *less than 10yr : male > female

Clinical Manifestation & Classification

        1.common migraine

        2.classic migraine

        3.migraine variants

        4.cluster headache - rare in children

        5.complicated migraine

Common Migraine (Migraine Without Aura)

    ; *prevalent type

    ; not associated with aura

  ; headache

           - throbbing or pounding (박동성 두통)

    - *bifrontal or temporal region (not hemicranial) : bilateral

       - not intense than adults

        - usually persist for 1-3hr

    ; prominent nausea, vomiting, and associated with abd. pain, fever

    ; photophobia, light-headedness, extreme paleness, paresthesia of hands & feet

    ; FHx(maternal side) : 90%

Classic Migraine (Migraine With An Aura)

    ; aura (blurred vision, scotoma, photopsia(flashes of light),

          fortification sectra,irregular distortion of objects)

       2.vertigo, light-headedness

       3.sensory Sx : perioral paresthesia, numbness of hands & feet)

       4.distortion of body images

Migraine Variants

      include  1.cyclic vomiting

              2.acute confusional state

              3.benign paroxysmal vertigo

     1)Cyclic vomiting

      1.recurrent, sometimes monthly bouts of severe vomiting

         - dehydration & electro.abnormality (특히 infant)

      2.dehydration심해지면 systemic Sx 동반 (fever, abd. pain, diarrhea)

      3.pale, frightened, sonsciousness 정상

      4.deep sleep normal play & eating habits

      5.대개 migraine FHx (+)

      6.성장후 typical migraine headache 나타남

      7.Tx : 1.antiemetics P.R

               - dimenhydrinate 5mg/kg/24hour #4 (max. 300mg/24hr)

             2.excessive vomiting fluid replacement

    2)Acute confusional state

      1.bizzare migraine

        - confusion, hyperactivity, disorientation, unresponsiveness,

          memory disturbances,vomiting, lethargy

      2.neuro. exam.

        - defects of sensorium, delayed responses to stimuli, plantar extensor


      3.수시간 지속후 sleep후에 spontaneously clear & confusional state 기억못함


        1.Toxic encephalopathy (특히 adolescent age)

           -localized cerebral edema d/t increased vascular permeability

           -Dx  : Hx : confusion attack전에 severe headache or visual Sx선행

                  family Hx of migraine (+)


        3.Acute psychosis

        4.postictal state

        5.petit mal status epilepticus

        6.head trauma


      5.EEG : regional areas of slowing (2-4 CPS)

              during & shortly after the attack but routinely returns to normal

              within a few days

Complicated Migraines

      : development of neurologic signs during a headache that persist following

        the termination of headache

     * 3 subtypes

         1.basilar migraine

         2.ophthalmoplegic migraine

         3.hemiplegic migraine

       1)basilar migraine

         1. basilar & post. cbr. a. vasoconstriction

              - brain stem sign predominant

         2. major Sx : vertigo, tinnitus, diplopia, blurred vision, scotoma,

                      ataxia, occipital headache

         3. Alterations in consciousness followed by generalized seizure

         4. attack neurologic sign & symptome complete resolution

         5 .대부분 strongly (+) FHx of migraine

         6. relative minor head trauma precipitating 가능

         7. adolescent adult classic migraine

         8. 4 이하 female : particular risk

       2) Ophthalmoplegic migraine

         1. relatively rare in children

         2. 3rd N. palsy, ipsilat. to headache during attack

         3. DDx : congenital aneurysm compressing the 3rd n.

     # Amaurosis fugax : acute, reversible, mononuclear blindness

       3) Hemiplegic migraine

         1.onset of unilat. sensory or motor signs during an episode of migraine

         2. hemisyndrome - children에서 adult보다 흔함

             (numbness of face, arm, leg, unilat. weakness, aphasia)

           소아에서 1회이상 attack드묾

         3. neurologic sign : may be transient or may persist for days

         4. child에서 single episode complete stroke - unusual

         5. in older child, adolescent - relatively good Px

                  (+) FHx of similar hemiplegic events

         6. some children with migraine develop the syndrome of alternating


          :- infant onset

          - Acute hemiplegia migraine initial manifestation일수 있고 재발

             가능 : one side and then the other

         7.frequent episode of vasoconstriction asso. with ischemia

            - irreversible cbr. injury

            - mental retardation & epilepsy

 Diagnosis & Differential Diagnosis

     * basilar migraine DDx

        1.cong. malformations of the skull & Cx. vertebrae

        2.post. fossa tumors

        3.toxins & drugs

        4.metabolic abnormalities (Leigh ds. pyruvate decarboxylase deficiency)

     * hemiplegic migraine DDx

        1. AV malformation

        2. MELAS (mitochondrial myopathy encephalopathy lactic acidosis stroke)

        3. Cbr. tumor

        4. Todd paralysis

        5. clotting disorders

        6. hemoglobinopathy (Sick cell ds.)

        7. metabolic condition (homocystinuria)

         * Table 545-1 P 1704


avoiding certain initiating stimuli -> 50% 이상 감소

(stress, fatigue, anxiety -> TMC precipitators

                 - 특히 unrealistic pressure or demands 가해질때

                 - 학업에도 능력 평가가 중요

certain foods, bright flashing light, sun exposure,

excessive physical exertion, mild head trauma, loud noises,

hunger, fatigue, motion sickness, drugs(alcohol & oral pills) )

Acute attack : analgesics & antiemetics

 1. Acetamminophen / Ibuprofen : mild, infrequent, short duration

 2. Ergotamine preparations

    : severe, classic migraine 가진 older children or adolescent

      early stage of attack 효과 : 투여 시기

       => first sign of attack있을때

      1 mg PO, SC. or PR. (repeat dose-30분후)

      CIx : hemiplegic episodes

 3. Dimenhydrinate (antiemetics)

    : 5mg/kg/24hour #4



    : specific, selective 5-HT- agonist

     - acute phase of classic, common migraine effective

     - SC or PO

     - S/E : hot flushes, N/V, fatigue, drowsiness, HT,

       coronary vasospasm-adult

       (18 이하에서 인정 못받음)

# Prophylaxis

  ; Indication

       - more than 2-4 severe episodes monthly

       - unable to attend school regularly

    ; continuous daily medication

        Table 545-2

         - *propranolol (β-blocker)

                   / *drug of choice

                   / maintained for 1yr

# behavior management

    ; biofeedback & self - hypnosis

  ; 8 이상에서 효과적

545.2  Organic Headache

       - IICP -> tension or traction of Cb. blood vessels & dura

       - early morning, 잠에서 직후, vomiting동반

       - diffuse, generalized frontal & occipital region 두드러짐

# children에서의 원인

        1.Brain tumor (post. fossa)


        3.meningitis, encephalitis

        4.Cbr. abscess

        5.subdural hematoma

        6.chronic lead poisoning

        7.psuedotumor cerebri

        8.AV malformation   ----------------------+

          berry aneurysm                          |

          Collagen vascular disease affecting CNS | not associate with IICP

          Hypertensive encephalopathy             |   

          Acute SAH                               |   

          Stroke        --------------------------+

545.3 Tension Or Stress Headache

       사춘기이전에는 비교적 드묾, 오전에는 드묾

      1) cl/f

        1.school day esp. test anxiety시에 명백

        2.can be continuous & persist for weeks, tend to wax & wane,

          build in intensity during the day

        3.hurting or aching (not throbbing)

        4.frontal region & may localize over vertex or occipital area

        5.대개 not asso. with nausea, vomiting

      2) Dx  : by exclusion

      3) Tx

        1.reassurance & explanation with regard to how stress may cause

          a headache

        2.remove anxiety-provoking situations

        3.acetaminophen & other mild analgesics

        4.sedative & antidepressant : 드물게 필요

        5.severe case : hospitalizations (특히 underlying depressive illness)

        6.biofeedback & self-hypnosis  

Chapter 546.  Neurocutaneous Syndromes

; heterogenous group of disorders

; abnormalilties of both the integument & CNS

*; defect in the differentiation of primitive ectoderm

# Classification

    1. Neurofibromatosis

    2. Tuberous sclerosis

    3. Sturge-Weber disease

    4. von Hippel-Lindau disease

    5. Ataxia telangiectasia

    6. Linear nevus synd.

    7. Incontinentia pigmenti

546.1 Neurofibromatosis (von Recklinghausen disease)

; autosomal dominant

; 1/4000 of the population

; protean, progressive in that distinctive features

; abnormality of neural crest differentiation & migration during the early stages of embryogenesis

    - maybe due to nerve or glial growth factor

Clinical Manifestation & Diagnosis

# Classification

    1. NF-1 ; *common

    2. NF-2

Neurofibromatosis Type 1

# Diagnostic Criteria

    ; any two of the following sign

           1) cafe-au-lait spot

                   ; prepubetal - at least 5 with more than 5mm

                ; postpubertal - at least 6 with more than 15mm

                   ; hallmark in 100%

                   ; present at birth and then increase in size, number, pigmentation(esp. 1st few years)

                   ; predilection site

                           - trunk & ext.

                - *sparing of the face

           2) axillary or inguinal freckling

                   ; multiple hyperpigmented areas of 2-3mm in diameter

    3) *iris Lisch nodules

                   ; two or more

                   ; hamartomas

                   ; 90% in NF-1, not component in NF-2

           4) neurofibroma(two or more) or plexiform neufibroma(one)


                           ; skin along peripheral N and blood vessels

                           ; within viscera

                           ; characteristics in adolescence or pregnancy

                           ; small rubbery lesions with purpish discoloration

                           ; at birth due to diffuse thickening of nerve trunks

                           ; in the orbitl or temporal region of face

                   plexiform neurofibroma

                           ; hyperpigmented greater than cafe-au-lait spot

                           ; overgrowth of extremities, deformities of the corresponding bone

    5) distinctive osseous lesion

                   ; *kyphoscoliosis in 40%

                   ; dysplasia of sphenoid wing

                           --> pulsating exophthalmos

                   ; bowing of the tibia, fibula --> pathologic fracture

         6) optic glioma

                   ; 15% of NF-1

                ; relatively benign tumors consist of glial cells & mucinous material

         ; mostly asymptomatic, normal vision

                   ; *20% visual disturbance or precocious sexual development

                           - due to secondary tumor invasion of hypothalamus

         ; unilat. optic glioma

                        - afferent pupillary defect

                           - swinging flashlight test

                ; *NF-1 & plexiform neuroma of eyelid

           --> high association with ipsilat. optic glioma

                ; CT finding

                           - diffuse thickening

                           - localized enlargement

           - distinct focal mass originating from optic n. or chiasm

           7) 1st degree relative with NF-1 whose diagnosis was based on the aforementioned criteria

                   ; NF-1 gene on chromosome 17q11.2

# Neurologic Cx

    1) learning disabilities

  2) attention deficit disorders

  3) abnormalities of speech

  4) complex partial & GTC seizures

  5) *macrocephaly with normal sized ventricles

       - *but hydrocephalus rare

  6) hemiparesis & intellectual deficits due to cerebral vessels occlusion

  7) psychologic disturbance

  8) malignant neoplasm

           - significant problem in NF-1

    - *differentiate neurofibrosarcoma or malig. schwannoma

    - *high incidence of pheochromocytoma, rhabdomyosarcoma, leukemia, Wilms tumor

    9) abnormal brain MRI

           - abnormal signals in the globus pallidus, thalamus

Neurofibromatosis Type 2 (10% Of NF)

# diagnostic criteria

    ; one of following sign

           1) bilateral 8th N. masses consistent with acoustic neuroma

         2) parent, sibling, or child with NF-2 and either unilat 8th N. masses or any two of following

         - neurofibroma, meningioma, glioma, schwannoma, juvenile post.subcapsular lenticular opacities

# Bilateral Acoustic Neuroma

  ; *distinctive feature

    ; hearing loss, facial weakness, headache, unsteadiness during childhood

    ; cerebellopontine angle mass in 2nd & 3rd decade

# less common cafe-au-lait spot, neurofibroma

# posterior subcapsular lens opacities

    ; 50%

# CNS tumor

    ; schwann cell & glial tumors, meningioma

# gene for NF-2

    ; near the center of long arm of *chromosome 22q1.11


; no specific treatment

1. genetic counselling

2. early detection of treatable conditons or complications

  ; baseline study

        - audiogram

    - auditory brain stem & visual evoked potential

    - EEG

    - psychologic testing

    - roentgenographic skeletal survey

    - CT scan or MRI of brain & optic n.

  ; asymptomatic patient

    - annually re-exam with neurologic assessment

         ~ BP, auditory & visual screening

# A parent with NF

           ; 50% chance of transmitting the ds with each preg.

# one half of all case

           ; fresh mutation

# Standard DNA diagnosis

           ; not practical for NF-1

                   --> due to large size gene, significant number of mutaion

           ; examed in NF-2

                   --> single-strand conformational polymorphism of altered DNA sequence

546.2 Tuberous sclerosis

; autosomal dominant

    - one half sporadic

; 1/30,000

; *gene - chromosome 9q34

; *extremely heterogeneous disease

; younger Sx & Sg

    --> greater mental retardation


# Tubers

    ; characteristic brain lesion

    ; in convulutions of the cerebral hemispheres & subependymal region

    ; undergo calcification & projection into the ventricular cavity

           --> candle-dripping appearance

    ; in ther foramen of Monro

           --> obstruction of CSF flow

           --> hydrocephalus

    ; microscopic appearance

           - decreased numbers of neurons & proliferation of astrocytes

           - oddly shaped multinucleated giant neurons

    ; greater numbers of tubers

           --> more neurologically impaired

Clinical Manifestation

# Infancy

  ; *infantile spasm & hypsarrhythmic EEG pattern

  ; typical hypopigmented skin lesion on trunk & extremities

           - ”ash leaf spot”

           - 90%

           - enhanced by Wood's UV lamp

  ; calcified tubers in the periventricular area in CT scan

        - may not apparent until 3-4yr

  ; seizure

           - difficult to control

    - develop into myoclonic epilepsy later age

    ; high incidence of mental retardation

# Childhood

  ; generalized seizure

  ; sebaceous adenoma

           - *develop between 4-6yr

    - *tiny red nodules over nose & cheek

        - enlarge coalesce --> fleshy appearence

    ; shagreen patch

    - roughened,raised lesion with an orange-peel consistency located in lumbosacral region

  ; subungual or periungual fibroma

        - arise from stratum lucidum of finger & toe

  ; retinal lesion

    - mulberry tumors that arise from the nerve head

       - round & flat gray-colored lesion in disk


  6. NF 비해 brain tumor 드물지만

      종종 tuber --> malig.astrocytoma 진행

  7. 50% : rhabdomyoma of heart

      - maybe multiple or located at the apex of left ventricle

      - CHF & arrhythmia

  8. kidney involve : 대부분

      ; harmatoma or polycystic disease

         - hematuria,pain,renal failure

  9. angiomyolipoma

     - generalized cystic or fibrous pul. changes in lung

     -> spontaneous pneumothorax


         1. relies on high index of suspicion when

            assessing a child with infantile spasm

         2. typical skin,retinal lesions observation in

            all patients with seizure disorder

         3. 확진 : head CT scan or MRI


         1. seizure control

         2. baseline study

            ; renal US,echocardiogram,chest roentgenogram

              with follow-up

         3. ICP 증가 Sx & Sg

            - obst. of foramen  Monro by tuber -+- suggest

              malig. transformation of tuber   -+

546.3 Sturge-Weber Disease

      1. facial nevus(port-wine stain)

      2. seizures

      3. hemiparesis

      4. intracranial calcification

      5. M.R.

        * sporadic - 1/50,000


         ; anomalous development of primordial vascular bed

           during early stages of cerebral vascularization

Clinical Manifestation

    ; facial nevus

           - at birth

    - unilateral

           - always involve upper face & eyelids

    - over lower face,trunk,in mucosa of mouth & pharynx

    ; *buphthalmos & glaucoma of ipsilat. eye

    ; seizure during 1yr

           - refractory to anticonvulsants

       - focal,tonic-clonic & contralat. to side of facial nevus

    ; slowly progrssive hemiparesis

    ; M.R. or severe learning disabilities

        - at least 50% during later childhood


        1. skull radiography

           - intracranial calcification in occipitoparietal

             region in most patients

             "serpentine" or "railroad-track" appearance

        2. CT scan

           - extent of calcification

             ; unilat. cortical atropy

               & ipsilat. dilatation of lat. ventricle 동반


        1. recalcitrant seizure hemispherectomy or

           lobectomy -- prevent development of M.R.( 특히 OP ; 1세동안 시행시)

        2. regular measurement of intraocular pr.

        3. flashlamp-pulsed laser therapy to facial nevus

        4. special educational facilities

546.4 Von Hippel-Lindau Disease

       - A.D. gene 3p25

Cerebellar hemangioblastoma

        1. present in early adult life or beyond with

           Sx & Sg of IICP

        * spinal cord hemangioblastoma

          -- abnormalities of proprioception

             & disturbances of gait & bladder dysfunction

        2. CT scan ; cystic lesion with a vascular mural nodule

        3. totoal surgical removal of tm ; curatve

        4. 25%에서 retinal angiomata 동반

      2) Retinal angiomata

        1. small masses of thin-walled capillaries

           that are fed by large & tortuous arterioles & venules

        2. peripheral retina 위치

            - vision is unaffected

           but exudation

            - retinal detachment & visual loss ; good results

        3. Tx ; photocoagulation & cryocoagulation

      3) Ex : cystic lesions of kidney,pancreas,liver,epididymis

              pheochromocytoma 동반

         * TMC cause of death -- renal carcinoma

546.5 Linear Nevus Syndrome

       ; 특징  1) facial nevus

                 1. forehead & nose (midline distribution 경향)

                 2. quite faint during infancy

                     -- later become hyperkeratotic

                        with a yellow-brown appearance

               2) neurodevelopmental abnormalities

                 1. 1/2 이상에서 seizure disorder & M.R.

                     (generalized myoclonic or focal motor)

                 2. CT ; 대부분 정상

                    but, hemimegalencephaly with harmatomatous change

                 3. focal neurologic signs

                    ; hemiparesis & homonymous hemiamopsia

Chapter 547. Movement Disorder

547.1 Ataxias

Congenital Anomalies Of Post. Fossa

 1) Dandy-Walker syndrome

 2) Chiari malformation

 3) encephalocele

 4) agenesis of cerebellar vermis

   1. generalized hypotonia & decreased DTR

   2. delayed motor milestones & truncal ataxia

   3. A.R. ; familial variety(Joubert disease)

   4. abnormalities of resp. during infancy

   5. ataxia,M.R. & abnormal eye movement

Infectious Cause Of Ataxia

# cerebellar abscess

# acute labyrinthitis

 - associated with middle-ear infections

 - intense vertigo,vomiting,abnormalities in labyrinthine function

    (ice water caloric testing)

# acute cerebellar ataxia

    ; 1-3yr

  ; *autoimmune response to viral agent affecting cbll

           - *varicella, coxsackie, echovirus infection 2-3wks 발생

    ; *sudden onset truncal ataxia

  ; *initially vomiting but no fever & nuchal rigidity

    ; horizontal nystagmus(50%), dysarthria

    ; CSF exam

           - normal at onset of ataxia

       - slightly pleocytosis of lymphocytes(10-30/mm3)

       ; not unusual

             --> later CSF protein 증가

    ; Prognosis

           - excellent

           - ataxia 수주후에 호전된다. : 2개월까지 지속되는 경우도 있다.

         - small number long term sequelae

                   / behavioral & speech disorders

                / ataxia


Toxic Cause Of Ataxia

; *alcohol, thallium, anticonvulsants(esp. phenytoin)

Brain Tumor

 cbll tm

 frontal lobe tm ; cbll frontal lobe연결하는 fiber 파괴시


Metabolic Disorders

Abetalipoproteinemia(Bassen-Kornzweig Disease)

   - benign in childhood with steatorrhea & failure to thrive

   - blood smear


      s-cholesterol & TG

      s-B-lipoproteins ; absent

   - neurologic sign ; late childhood

Arginosuccinic Aciduria

Hartnup Disease

Degenerative Disease Of CNS

; important due to genetic consequence & poor Px

Ataxia Telangiectasia

    ; AR

  ; *common degenerative ataxia 

    ; *gene on chromosome 11q 22.3-23.1

  ; ataxia

           - *begining at 1-2yr

    - progression to loss of ambulation by adolescents

  ; *oculomotor apraxia

           - difficulty fixating smoothly on objects

                   --> overshooting targets with lateral movement of head

                   --> re-fixing of eyes

    ; horizontal nystagmus

    ; telangiectasia

           - mid-childhood

    - on bulbar conjunctiva,nasal bridge,ear, exposed surface of extrem.

    ; skin - loss of elasticity

    ; Abnormalities Of Immunologic Function

        - decreased serum & secretory Ig A

           - diminished Ig G2,G4, IgE

           - more than 50% of patients

  ; increased incidence of lymphoreticular tm, brain tm (50-100)

    ; Chromosome break ( 특히 chromosome 14) 빈도 상승, A-FP 상승

  ; 사망 원인 : infection or tm. dissemination

Friedreich Ataxia

    ; AR or AD

           - *AR : chromosome 9q13-q21.1

    ; ataxia

           - prior to 10yr

    - ataxia telangiectasia보다는 늦다

    - slowly progressive

    - lower extrem > upper extrem

  ; *Romberg test(+), Nystagmus(+)

  ; DTR(-) : esp. Achilles

  ; extensor plantar response

  ; explosive, dysarthric speech

  ; apathetic, normal intelligence

  ; significant weakness of dist. musculature of hands & feet

  ; *marked loss of vibration & position sense owing to degeneration of post. columns

    ; indistinct sensory change in dist. extrem

    ; skeletal abnormalities

       - high-arched feet ( pes cavus), hammer toes, progressive kyphoscoliosis

    ; electrophysiologic study

      - abnormal visual, auditory brain stem, somatosensory evokeded potential

    ; cause of deaths

           - hypertrophic cardiomyopathy with progression to intractable CHF

Spinocerebellar Ataxia

Roussy-Levy Disease

    ; atrophy of muscle of the lower extrem

Ramsey-Hunt Syndrome

    ; Myoclonic epilepsy 동반

Olivopontocerebellar Atrophies

  ; at least 5 familial subtypes dominant inheritance

    ; ataxia, cranial N. palsies, abn'l sensory findings in 2nd or 3rd decade

   ( children에서 일어나는 경우도 있다.

     Finnish ancestry

       recent classification of hereditary atxia

       --> based on biochemical analysis

  ; aspartic acid

   glutamic acid contents in inf. olive & purkinje's cell layer of cbll

       --> significantly decreased


: Vit E deficency

         Pelizaeus-Merzabacher disease

         Neuronal ceriod lipofuscinoses

         late onset GM2 gangliosidosis

547.2 Chorea

Sydenham Chorea

    ; *common acquired chorea of childhood

    ; Sole neurologic manifestation of Rheumatic fever

# 3 Major feature

  1) chorea

  2) hypotonia

  3) emotional lability


    ; autoimmune response of CNS to strptococcal group A organism

       ·primary pathologic finding

          ; vasculitis of cortical arteries

       ·most prominently involved

          ; cerebral cortex, caudate nucleus, subthalamic nuclei

       ·chorea, functional overacting of dopaminergic system

# Chorea

       1. 대개 symmetric

       2. rapid & jerky

       3. prominent in face, trunk, distal extremities

           dart from one m. group to another

       4. increased by stress, disappear during course

# typical signs

       1. milkmaid's grip ( relaxing & tightening hand shake )

       2. choreic hand ( spooning of extended hand by flexion at wrist

                     & extension of fingers)

       3. darting tongue

         ( tongue - cannot be protruded for longer than a few seonds)

       4. pronator sign ( 머리위로 잡을 팔과 손바닥을 바깥쪽으로 내는 )

         ·수개월 지속 (1-2번까지)

         ·20% ; initial episode recurrent chorea 경험

# incapacitating chorea 치료

        1. diazepam                    ---+-- S/E : tardive dyskinesia

        2. phenothiazanes or haloperidol -+

Familial Paroxysmal Kinesigenic Choreathetosis

         --> daily PC prophylaxis (adult PC prophylaxis - adulthood까지)

Huntington Disease

    ; progressive degenerative disorder of CNS of unknown

    ; 1:10,000 affect


    ; AD

  ; *gene on tip of the long arm of chromosome 4p 16.3

Clinical Manifestation

1. progressive chorea & presenile dementia : 35-55세에 발병

            ( rare in pediatric population, 1% 이하 - 10세전에 onset )

         2. TMC neurologic finding in pediatric patient

              : rigidity & dystonia

         3. chorea

            - prox. m. involve

         4. abnormal movements are often incorporated into semipurposeful acts

              in attempt to mask the abnormality

         5. M.R. & behavioral problem

         6. GTC seizure - resistant to anticonvulsants

         7. cbllar sg (50%) oculomotor apraxia(20%)

         8. course : adult 비해 rapid

           (사망까지 8 yr --> children, 14yr --> adult)

       * CT : mean bifrontal to bicaudate ratio

              <-- atrophy of caudate nucleus & putamen

       * MRI : hyperdensity of putamen

547.3 Dystonias

    : intermittent twisting motion that produces exaggerated turning &

       posture of the extrem. & trunk

  * CAUSE : 1) perinatal asphyxia

            2) dystonia musculorum deformans

            3) drugs

            4) wilson disease

            5) Hallervorden-spatz disease

Dystonia Musculorum Deformans

     ; children 시작하는 slowly progressive disorder

     ; Eti : abnormality of catecholamine metabolism in CNS

    () AD trait (Askenazi Jewish ; 1:1000 incidence)

      ·gene : chr 9q34

   * clinical manifestaion

    1. initially unilateral posturing of the lower extremity

        (esp. in foot)-tip-toe walking

    2. dystonic movement : initially intermittent & exaggerated by stress

          - 결국 all extremity & axial musculature, face & tongue muscle affeted

            : impaired speech & swallowing

   * Tx.

    1. Trihexphenidyl(artane)

        2mg/24hr --> 60-80mg/24hr or S/E 나타날 때까지 천천히 증량

        S/E : urinary retention, mental confusion, blurred vision

    2. carbamazepine, levodopa, bromocriptine, diazepam

Dopa-Responsive Dystonia (DRD)

    ) ·variant of childhood onset idiopathic torsion dystonia

        ·female : common

        ·present at mean age of 6.5 yr with dystonia

        ·respond : small daily dose (50-1000mg) of levo dopa

        ·dystonia - diurnal improving with sleep

        ·signs of Parkinson disease - ultimately become evident

        ·AD inheritance

Segmental Dystonia

        ·writer's clamp, blepharospasm, buccomandibular dystonia

        ·adult : more common

        ·특히 blepharospasm (adult)

           --> local injetions of botulism toxin 반응

        ·extremity involvement

          ; cryothalamectomy with placement of lesion in ventro lat. thalamus


       ·Phenytoin, carbamazepine : 치료 용량에선 드물게 발생

       ·phenothiazine(idiosyncratic reaction)

          -- Tx. : IV diphenhydramine 1-2mg/kg/dose ; rapidly reversed

Wilson Disease

      : rare autosomal recessive inborn error copper metabolism


       resulted in cirrhosis of liver, degenerative changes in CNS

         (esp, in basal ganglia)

      * gene : chromosome 13 close to esterase O & retinoblastoma locus

         (신판 13q14,3)

      * neurologic manifestation :

        1) initial sign : progressive dystonia

        2) tremors of extremity

           : unilateral - coarse, generalized, incapicitating

              : wing-beating tremor

        3) sign of progressive basal ganglia destruction

           : drooling, fixed smile, dysarthria, dysphonia, rigidity,

              contracture, choreathetosis

        4) Kayser-fleischer ring : pathognomonic (in slit lamp exam)

          : result from deposition of copper in Descemet membrane

        5) untreated state : bed-ridden, demented, dies in coma

                             within a few years from onset of disease

        6) MRI or CT scan : ventricular dilatation

                            in advanced case with atrophy of cerebrum

                            lesions in thalamus & basal ganglia

Hallervorden-Spatz Disease

       : rare degenerative disorder, inherited as in A.R. trait

      * clinical manifestation

       1. progressive dystonia, rigidity, choreathetosis

          -- appear in childhood

       2. spasticity, extensor plantar response, dysarthria,

          intellectual deterioration

          -- evident during adolescence

       3. death - in early adulthood

       * CT scan : lesions of globus pallidus

       * neuropathologic exam

          : excessive accumulatio of iron-containing pigment

            in globus pallidus & substantia nigra


      ·perinatal brain insults

      ·phenothiazine idiosyncracy major movement disorder


         ; after hypothalamic bypass surgery for congenital heart disease


         progressive destruction of neurodegenerative conditions(Krabe ds.)에서



      ·involuntary movement

         characterized by rhythmic oscillaries of part of body prominent

          during rest or with movement


    1. Jitteriness

       ; rhythmic tremors of equal amplitude around fixed axis

       ; mc involuntary movement of healthy full-term infant

        ·crying, exam 나타남

        ·infant awake, alert 있거나 --+- abnormal

          tremor 생후 2 이후에도 지속시 --+

        ·organic cause


            intracranial hemorrhage

            hypoxic encephalopathy




            prenatal exposure to maternal marijuana

            narcotic abstinence syndrome

    2. Essential tremor


       ·childhood에서 시작, slowing progressive

       ·frequency of 4-9 Hz

       ·주로 distal upper extremities affect

       ·postural & disappear with rest

       ·writing, activities of daily living difficulty야기시

          --> propranolol hydrochloride or primidone trial

          --> favorable response

   3. primary writing tremor

      ·writing시에만 tremor 야기

      ·jerky tremor

      ·often response to beta-blockers or anticholinergics

   4. Tremor야기하는 drugs


      ·valproic acid


      ·tricyclic antidepressants



   5. Metabolic disease initial manifestation





   6. Severe head injury 회복시

      ·proximal tremor

      ·enhanced by movement

      ·respond to propranolol

   7. Wilson's disease

       postural tremor associated kinetic movements

   8. Hereditary dystonia parkinsonism dyndrome

      proximal tremor 때때로 야기

547.4 Tics

 ·spasmodic, repetitive, stereotyped movements

     -- non-rhythmic, exacerbated by stress

# 3 Group

  1) transient tic disorder

   -- TMC movement abnormality of childhood

   -- male predominant to female,  family history (+)

   clinical manifestation

    - eyeblinking or facial movements & occasional throat-clearing noise

    - persist from few weeks to less than 1 year

    - need not drug therapy

   2) chronic motor tic disprder

     - children에서 occur & adult life동안 지속

     - involved up to 3 muscle group simultaneously & occur throughout life

     - no clear family history or sex prevalence

   3) Gilles de la Tourette syndrome(TS)

      ·life-long condition, onset age : 2-21 years,   1:2000 prevalence

      ·AD : gene ch 18q 22.1

      ·4 components

          motor tics

          vocal tics

          obsessive compulsive behavior

          attention deficit hyperactivity disorder (ADHD)

Clinical Manifestation

       1) Motor tics ; associated with numerous fluctuating tics of face, eye,

                       neck, shoulder

       2) Vocal tics ; accompanied by vocalization - uncontrollable

           : throat-clearing, sniffling, coughing, barking, coprolalia(외설증)

             echolalia, palilalia, echokinesis

       3) compulsive behavior

         ; touching, licking, repetitive thoughts, motor actions

       4) ADD ( in more than 50%)

     * treatment (motor tics or vocalizations에는 medication 고려해야 한다.)

       1) behavior management & biofeedback program

       2) haloperidol : effective in more than 50%

           -- 0.25mg/24hr ---+-- weekly by 0.25mg

                             +-- up to 2-6mg/24hr

           S/E : cognitive impairment, lethargy, fatigue, depression

                 restlessness, EPS, tardive dyskinesia, acute dystonic reaction,


       3) penfluridol, pimozide, clonidine

      ) * clonidine

        ·α2-adrenergic agonist

        ·0.05mg/24hr 시작

           --> max. 0.125-0.2mg/24hr

        ·vocal & motor tics control위해 주간 필요

        ·S/E : lethargy, fatigue, drowsiness

Chapter 548. Encephalopathies

548.1 Cerebral Palsy

  : static encephalopathy

   - nonprogressive disorder of posture and movement,

     often associatcd with epilepsy and speech, vision, and intellect

     resulting from a defect or lesion of the developing brain

   - prevalencc : 2/1,000

Epidemiology And Etiology

Clinical Manifestations

Table 548-1

  - associated with spectrum of developmental disabilities

    ; M.R., epilepsy,visual,hearing,speech,

      cognitive, and behavioral abnormalitics

Spastic Hemiplesia

   a) decreased spontaneous movements on the affectcd side

   b) very early age : hand preference

                       arm > leg

      at 1 yr of age, obvious and in difficulty in hand manipulation

      in 18-24mo., delayed walking , circumductive gait

   c) growth arrest in the hand and thumb nail, esp.if contralateral

       parietal lobe is abnormal

   d) affected extremities : spastic(esp. squinovarus deformity in ankle)

   e) often  tip-toe walking & dystonic posture during running

      in affected upper extremity

   f) ankle clonus, Babinski sign, increased DTR, weakness of

      hand and foot dorsiflexions

   g) in 1/3 in patients - seizure disorder (during 1-2 year)

   h) in 25% in patient - cognitive abnormalities (M.R.)

   i) CT scan or MRI : atrophic cerebral hemisphere with a dilated

                       lateral ventricle contralateral to the side of affected


Spastic Diplegia

    ; bilateral spasticity of the legs

   a) often noted in crawling

     -  drag the legs behind more as a rudder rather than

        using the normal 4 stance crawling movement

   b) in severe spastic case, application of a diaper is difficult

      due to excessive adduction of the hips

   c) spasticity in legs with brisk reflexes, ankle clonus,

      and a bilateral Babinski sign.

   d) axillary hanging scissoring posture of the lower extremities

   e) delayed walking, equinovarus, tiptoe walking

   f) disuse atrophy and impaired growth of the lower extremities

      disproportionate growth with normal development of the

      upper torso

   g) normal intellectual development : excellent

      Px for seizures : minimal

   h) neuropathologic finding : periventricular leukomalacia

      -> premature infant에서

Spastic Quadriplegia

   a) most severe form of CP

      : marked motor impairment of all extremities

       and high association with mental retardation & seizures

   b) supranuclear bulbar palsy

      : swallowing difficulties, aspiration pneumonia

   c) autopsy finding

      : disruptd central white matter  by areas of necrotic degeneration

   d) neuroloig exam

      : increased tone and spasticity in all extremities,

        decreased spontaneous movements, brisk reflexes,

        plantar extensor responses

   e) late childhood : flexion contracture of the knees & elbows

   f) associatecl developmental disabilitles - speech and visual abnormalities

   g) often have evidence of athetosis - mixed CE 분류되기도

Athetoid CP

   a) relatively rare

   b) hypotonia, poor head control, marked head lag

   c) feeding difficulty & tongue thrust and drooling

   d) athetoid movements(evident after 1 yeras)

      & coincide with hypermyelination of basal ganglia

      : status marmoratus

   e) speech abnormality (oropharyngeal muscle involved)

     -- slurred sentences,impaired voice modulation

   f) no UMN sign

      uncommon seizures,preserved intellect


   1. Hx

   2. P/E

   3. baseline electroencephalogram (EEG)

   4. CT scan

   5.tests of hearing and visual function


   1. spasticity ; dantrolene sodium,benzodiazepine,baclofen

   2. athetosis ; levodopa

   3. dystonia ; carbamazepine,trihexyphenidyl

548.2 Mitochondrial Encephalomyopathies

Mitochondrial Encephalomyopathy, Lactic Acidosis, & Stroke-Like Episodes (MELAS)

Clinical Manifestation

    ; *normal for first several years

       - gradually delayed motor & cognitive development

  ; *short stature & focal or generalized seizure disorder

    ; acte hemiparesis due to stroke

    ; clinical course

           - hemiparesis, hemianopia, cortical blindness,dementia

  ; postmortem study

       - focal encephalomalacia, cortical microcystic liquefaction, & basal ganglia calcifications

Laboratory Finding

    ; acute episodes

           - increased serum LDH

    ; CT finding

        - basal ganglia caicification & lucent areas that do not respond to specific cerebral vv.

    ; muscle biopsy

           - *ragged-red fibers


    ; point mutation at nt 3243 in tRNALeu(UUR) gene of mtDNA

    ; biochemical study of m.

        - complex I deficiency


; dismal


    ; *therapeutic trials of corticosteroids and CoQ10

    ; dichloroacetate

        - lowering the serum lactate concentration

    - marked clinical improvement

Myoclonus Epilepsy & Ragged-Red Fiber(MERRF)

Clinical Manifestation

    ; normal during early years

    ; *myoclonic epilepsy & progressive ataxia associated with dysarthria, nystagmus

    ; a few optic atrophy

  ; *deep sensation abnormality & pes cavus

       - confused with Friedreich ataxia

    ; dementia, hearing loss, pph neuropathy, spasticity

    ; slowly progressive intellectual deterioration

  ; FHx(+), short stature


    ; pathologic findings

       - increased serum LDH

           - ragged-red fibers in muscle biopsy

    - *marked loss & degeneration of dendate nucleus & inf. olivary complex with drop out of purkinje cells and neurons of red nuclus

    ; *normal cerebral cortex, white matter

    ; point mutation at nt 8344 in the tRNALys gene of mt DNA

Kearns-Sayre Syndrome (KSS)

# Triads

    1) onset before 20 year

  2) progressive external ophthalmoplegia

  3) *pigmentary retinopathy

# at least one of the following

    ; *heart block, cerebellar syndrome, CSF protein above 100mg/dl

# other nonspecific but common features

    ; *dementia, sensorineural hearing loss, endocrine abnormalities

    ; *short stature, DM, hypoparathyroidism


    ; *ragged-red fiber with variant number of COX(-)fiber

  ; *mtDNA deletion


    ; poor

Genetics Of Diseases Caused By Defects Of Mitochondrial DNA

# deletions and duplications, point mutations

# Three Major Clinical Syndromes In The Group Of Deletions And Duplications

    ; *Kearns-Sayre syndrome, progressive external ophthalmoplegia with ragged-red fibers, Pearson marrow/pancreas syndrome

    ; sporadic inheritance

# Group Of Point Mutations

    ; *Leber hereditary optic neuroretinopathy, MELAS, MERRF, ATPase 6 mutation syndrome

    ; four maternally inherited diseases

    ; both sexes - equally affected

# threshold effect

  ; minimum critical No. of mutant genome necessary for expression of disease

Leigh Disease(Subacute Necrotizing Encephalomyelopathy)

   * cause  1. defeciency of pyruvate dehydrogenas complex

            2. defeciency of complex I

            3. deficiency of complex IV of respiratory chain

   * DDx of MELAS,MERRF,Kearns-Sayre syndrome

        ; sporadic or have strong element of material

          inheritance by AR

   * clinical manifastation

       1. infancy -- feeding & swallowing problem,vomiting,FTT

       2. delayed motor & language,generalized seizure


       3. intermittent respiration with associated sighing

          or sobbing -- suggests brain stem dysfunction 

       4. some patient ; ext. ophthalmoplegia & decreased visual acuity

   * pathologic finding

       1. lesion - thalamus,basal ganglia,tegmental gray matter,

                   periventricular,periaqueductal region of brain stem,

                   post. column of spinal cord 

       2. scatterd focus of necrosis & capillary proliferation

   * CT scan finding 

        : bilaterally symmetric area of low attenuation in

          basal ganglia

   * serum LDH : increased ; pathognomic

   * thiamine : temporary improvement in some cases

() * most patients die within 6 mo. of onset of symptom

       -- a few patients ; prolonged period of remission

Reye Syndrome

548.3 Other Encephalopathies

Zellweger Syndrome (Cerebrohepatorenal Syndrome [CHRS])

   ; rare, lethal disorder

   ; A.R. trait

   * clinical manifestation

     1. dysmorphic facies - frontal bossing,large anterior fontanel,

                            flattened occiput,abnormal external ears,

                            high-arched palate, excessive skin folds of the neck

     2. severe hypotonia, areflexia

     3. eyes - nystagmoid movements, bilateral cataracts,optic atrophy

     4. generalized seizures - evident early in life,

               associated with severe global developmental delay

               & significant bilateral hearing loss

     5. prominent hepatomegaly - shortly after birth, often associated with

               a history of prolonged neonatal jaundice

     6. rarely survive beyond 1 yr of age

Acquired Immunodeficiency Syndrome (AIDS) Encephalopathy

     ; common manifestation of infants & children with HIV infection

     ; neurologic signs in congenitally infected patient

       - appear during early infancy or maybe delayed to as late as 5 yr of age

     ; encephalopathy

       - acute onset,relentless, progressive course. but in some cases

           static or insidious deterioration

       - arrest in brain growth, developmental delay,

           and  evolution of neurologic signs

Lead Encephalopathy

Burn Encephalopathy

   ; 5% of children with significant burns

     during 1st several weeks of hospitalization

   * cause : 1. anoxia

              (smoke inhalation, CO poisoning, laryngospasm)

             2. electrolyte abnormalities

             3. bacteremia and sepsis

             4. cortical vein thrombosis

             5. concomitant head injury

             6. cerebral edema

             7. drug reactions

             8. emotional distress

   * clinical manifestation

       1. seizures : TMC

       2. altered states of consciousness, hallucinations, and coma

   * prognosis : excellent

       (particularly if seizures are the primary abnormality)

Hypertensive Encephalopathy

   : most commonly associated with renal disease in children

     -- AGN,chronic pyelonephritis, end-stage renal disease

   : marked systemic hypertension

     -- vasoconstriction of the cerebral vessels

     -- vascular permeability, causing areas of local cerebral edema

        and hemorrhage

    * clinical manifestation

       1. onset : acute, with seizures & coma,

                  more indolent, with headache, drowsiness and lethargy,

                  nausea & vomiting, blurred vision, transient cortical

                  blindness and hemiparesis

       2. eyeground exam. ; normal in children

          -- papilledema, retinal hemorrhages may occur

Radiation Encephalopathy

   1. acute radiation encephalopathy

     a) in young patients who received large daily doses

     b) vessel endothelial injury

        - enhanced vascular permeability, cerebral edema,

          and multiple hemorrhages

     c) clinical manifestation

        - suddenly become irritable and lethargic,headache

        - focal neurologic signs and seizures

        - hemiparesis due to infarct secondary to vascular occlusion

              of the cerebral vessels

     d) Tx : steroid - often beneficial in reducing the cerebral edema

                       and reversing the neurologic signs

   2. late radiation encephalopathy

     a) develops months to years after completion of therapy

     b) rare in children

     c) Cl/m

        - headaches,slowly progressive focal neurologic signs

                       (hemiparesis & seizure)

     d) CT scan ; cerebral atrophy & low-density lesion

Chapter 549. Coma In Childhood

# coma

    ; state of unconsciousness from which the chils cannot be aroused by ordinary verbal, sensory, or physical stimuli

    ; Glascow coma scale

        - less than 7 point : intubation & respirator

    - less than 5 point : grave prognosis

    - 5 - 8 point : better Px. in child than in adult

# ARAS (ascending reticular activating system)

    ; *각성 상태를 관장


Table 549-1

    ; *head injuty - common


    1. airway keep & cardiorespiratory system assess

    2. Glascow coma scale

    3. Hx

    4. P/E

    5. IV line keep & blood sampling for CBC,electrolyte,Ca.P

       glucose,creatinine,ammonia,ABGA,LFT,PT,PTT,toxic screen

       & 5 ml of heparinized blood

       -- if needs, for screening for metabolic cause

    6. dextrostix -- if hypoglycemia, 25% dextrose iv (2ml/kg)

    7. urinary catheter insertion

       -- check for urine volume & samlpe for glucose & ketone

    8. nasogastric tube insertion

       -- empty the stomach & prevent aspiration & analysis

          the gastric content

# Principle Of Therapy

     1. maintenance of the respiratory status

     2. normalization of cardiovascular function

     3. correction of the acid-base,fluid electrolyte abnormality

     4. control of the seizure,IICP,hyperthermia,hypothermia


     1. identify the specific cause of coma

     2. correct the problem in safe & controlled fashion

# structural cause of coma

      ; concussion,contusion,subdural & epidural hematoma

        cerebral edema,brain tumor,cerebral abscees

# Invasive intracranial pressure monitoring

      1) Ix. : 1. any infant or child with nontraumatic coma

               2. suspected increase in ICP to assess cerebral perfusion

      2) cerebral perfusion

         -- difference between mean arterial pr. & mean ICP

      3) ICP 15mmHg이하 or cerebral perfusion pressure 50mmHg이상 유지시

         --> neurologic outcome is improved

         ICP 50mmHg이상 or cerebral perfusion pressure 40mmHg이하

         --> poor outcome & death

# ICP 낮추는 방법

        1) paralysis & sedation with pancuronium,phenobarbital,

           morphine,& diazepam

        2) machanical hyperventilation(PaCO2 30 - 35mmHg이하로)

        3) osmotherapy with IV mannitol,furosemide

        4) drainage of CSF through the ventricular catheter

        5) infusion of colloid or dopamine

           -- increased cerebral perfusion pressure &

              increased systemic arterial pressure

        6) induction phenobarbital coma & steroid

           -- no effect in prognosis in comatose child

# Some indication of the outcome before inducing paralysis & placemant of respirator

        1) severity of coma (modified Glasgow scale)

        2) eye movement

        3) pupil reaction

           ; - 동공반사가 정상 - midbrain 정상

             - 중뇌 손상 - 동공 산대, 대광 반사 (-)

             - pinpoint pupil - opiate중독,barbiturate혼수,

                                pons 병변,organophosphate,


             - 편측동공의 산대및 고정 ; 3 뇌신경의 압박에 기인

                                        ipsilat. uncal herniation 잘생김

         4) level of BP,temperature

         5) motor pattern

         6) seizure pattern

         7) EEG

         8) neurophysiologic study

            ; brain stem auditory,visual,somatosensory evoked potential

              - 모든 wave form없을때

                 --> death or severe neurologic residua

# Poor Prognostic EEG Pattern

  1) burst suppression

  2) alpha-like activity

  3) very low amplitude activity for age

  4) electrocerebral silence

# Good prognotic EEG pattern

    ; *reappearance of normal sleep spindles

# Somatosensory Evoked Potential

  ; *sensitive & reliable method for evaluation of the neurologic outcome

    ; *within 1wk

           - normal SEP : normal outcome in 93% of case

           - absent SEP : poor outcome in 100% of case

       - asymmetric SEPs : hemiparesis sequelae in 100% of case

Chapter 550. Brain Death

# Diagnosis

    1) exclusion of possibility for recovery of all brain function

  2) cessation of all brain fhnctions are documented for an appropriate period of observation or trial of therapy

  3) Physical Examination Criteria

           ; patient must be *comatose, apneic, normothermic and normotensive with absence of vocalization and volitional movement

               - apnea

                           / absence of spontaneous respirations despite an adequate CO2 stimulus (i.e., 45-60 mm Hg)

           ; *brain stem responses must be absent

                - pupils

                           / midposition or fully dilated

           / no direct or consensual pupillary response to a bright light

           - no spontaneous eye movements(ice water caloric stimulation)

         - no lateral eye monement with head turning

        ; *no spontaneous movement(except spinal cord reflex, withdrawal, myoclonus)

                   & generalized flaccidity

# Lab. study

    ; to establish the cause of the coma & to specifically exclude a remedial condition  (toxic, metabolic, paralytic, sedative cause)


    ; period of electrocerebral silence utilizing standard technique

# Cerebral radionucleide angiogram

    ; absence of carotid circulation

Persistent Vegetative State(PVS)

      1. Def.

        state of "wakefulness without awareness"

          or  "permanent  unconsciousness"

      2. term PVS

        ; lack of neurologic recovery over a period of at least 6 mo,

          with preservation of only autonomic nervous system vital functions

          (cardiac action. blood pressure. and respiration)

      3. - eyes ; move spontaneously

                 inconsistent tracking

         - lack of voluntary movement

            (withdraw from noxious stimuli 가능하기도)

         - cognitive function ; absent

           no language & unable to follow or comprehend commands

         - sleep-wake cycles ; present

         - brain stem reflexes(sucking, chewing. and swallowing) ; intact

         - pupils ; react to light & grasp

         - oculocephalic & tendon reflexes ; present

       4. 원인

           trauma. meningitis, asphyxia. aborted sudden infant death syndrome,

           near drowning, and congenital malformations of the brain

       5. diagnosis

          ; neurologic examination and assessment of higher cortical function

            in children beyond 2 yr of age

            (2세전 cognitive function 언어 assess하기 어려우므로)

       6. EEG ; residual activity

          neuroimage ; cortical atropy

          (neurologic outcome 예측할만한 test (-))

       7. pathologic exam

          ; extensive damage of forebrain structure

            with sparing of the brain stem

       8.Tx (supportive)

         - adequate fluids and nutrition

         - management of pain and discomfort

         - provision of a comfortable and nurturing environment

Chapter 551. Head Injuries

Skull Fractures

; not imply injuty to underlying brain

Linear And Nondepressed Skull Fracture

outcome in most cases - excellent

serious consequences

 - if fracture traverses the groove of the meningeal vessels, the sagittal sinus, or the lambdoid suture

 leptomeningeal cyst

  1. rare, late complication of a linear skull fracture

  2. slowly expanding pulsatile mass on the surface of the skull

  3. cause ; protrusion of leptomeninges and traumatized brain

             through the interrupted dura & skull fracture

             and expansion by the propulsion of CSF into the cyst

             by the pulsating brain

Basilar Skull Fractures

; difficult to demonstrate by radiologic examination

 * Cl/m

  a) temporal bone fractured - common

     -- bloody discharge from middle ear (hematotympanum)

        ecchymosis overlying the mastoid (Battle sign)

  b) cranial nerve palsy

      (particularly injury to the facial and auditory cranial nerves)

  c) basal ant. fossa fracture

     -- bilateral ecchymosis and swelling of the upper eyelids

           (raceoon's eye sign)

  d) fracture of the sphenoid bone

     -- damage oculomotor, trochlear, and abducens nerves

  e) CSF otorrhea ; stop within 24-48 hr

     CSF rhinorrhea ; rarely spontaneously arrest

     * DDx with nasal discharge

       1.  clear fluid

       2. tends to be profuse (particularly in sitting)

       3. positive for glucose using dextrostix

     -- if persists longer than 14 days,needs surgical repair

 complication ; bacterial meningitis(strep.pneumonia)

         -- open defect between the nasopharynx or mid ear & brain

         -- prophylactic antibiotics ; controversial

            (rarely use during 1st week of CSF rhinorrhea)

Depressed Skull Fracture

        * OP. indication : 1. neurologic deficits

                           2. compound wound

                           3. depression more than 3 - 5mm in depth


     1. 5 이하(because of unreliability of Hx & neurologic exam)

     2. cephalohematoma

     3. prolonged unconsciousness

     4. penetrating scalp wound

     5. palpable bony defects

     6. focal neurologic signs (irregular pupil,hemiparesis)

     7. discharge from the nose or ear

     8. discolored tympanic membrane

     9. blackened eyes

    10. symptoms and signs of increased intracranial pressure


    ; brief but variable & reversible alteration in the level of consciousness

  ; associated with transient paralysis of reflexes & amnesia for the events

      immediately surrounding the injury

  ; Indication For Concern Following Concussion & Justify Hospitalization

       1) deterioration in the level of consciousness

       2) persistence of confusion & lethargy

    3) excessive & copious vomiting

    4) unwitnessed or uncertain history of trauma

    5) focal neurologic sg.

    6) seizure

    7) any child with a confirmed skull fracture

Subdubal Hematoma

    ; collection of bloody fluid between the dura & cerebral mantle resulting from *rupture of bridging cortical veins that drain the cerebral cortex

  ; *physically abused infant

           - suscptible to this type

Acute Subdural Hematoma

     * Infantile subdural hematoma

        - during the first 6 mo

        - Cl/m ;

           1. focal or generalized convulsion

           2. poor feeding, FTT, irritability, lethargy, vomiting, and fever

           3. tense and bulging ant. fontanel & enlarged head circumference

           4. settig-sun eye due to IICP

           5. eyegrounds exam. -  50% 이상에서 retinal or subhyaloid hemorrhages

     * CT scan or MRI finding

      ; hyperdense image that may be indistinguishable from the surrounding bone

       ( # chronic subdural hematoma - hypodense & readily,identified)

     * Px for recovery

        ; poor(because of cbr. insult)

Chronic Subdural Hematoma

     - infant & elderly adult ; because of discrepancy between the size of

                                the brain & skull

     - tend to be bilateral in younger children

     - Cl/f ; 1. increasing head circumf.

              2. headache

              3. dullness

              4. personality change

              5. focal convulsion

              6. sudden loss of consciousness

              7. signs of IICP

Epidural Hematoma

    ; bleeding into extradural space from rupture of the middle meningeal a. or a tear in dural veins owing to direct trauma to region of the temporal bone

 compression of the temporal lobe

 --> herniation of  uncus ; life-threatening condition

 Cl/f ; 1. after injury : brief period of unconsciousness

                         -> variable lucid interval from minutes to days

        2. hematoma impinges on the temporal lobe

           -> progressive loss of consciousness associated with vomiting,

              a severe headache,& focal neurologic signs

               (ipsilateral dilatation of pupil),

               complete 3rd-nerve paresis, contralat.hemiparesis,

              and papilledema(20%)

 CT scan ; diagnostic

--> hyperdense biconcave image


; excellent if the diagnosis is made early with prompt surgical evacuation

Severe Head Injuries

    * major insults to brain

      1. contusion (frontal lobes,inferolat. portion of the temporal lobes)

      2. penetrating injury

      3. presence of an intracerebral hemorrhage

      4. diffuse axonal injury due to shear forces

    * initial sg. associated with a poor Px.

      1. fixed & dilated pupils

      2. apneic breathing

      3. decorticate posture

      4. Glasgow coma scale

()* severe head injury 충분한 radiologic study있을때까지

      spinal cord injury 고려해야함


   * Management of cbr. edema

     1. adequate oxygenation

     2. elevation of the head of the bed to 30 degrees

     3. judicious use of isotonic IV fluids - SIADH 주의

     4. hyperventilation & maintain  PCO2  30-35 mmHg

     5. hyperosmolar agents

        - mannitol IV in 20% solution 1-1.5g/kg/dose

                      --> 0.25-0.5 g/kg

                       (serum Osm.320mOsm/l 이하로 유지)

     6. ICP monitoring

     7. glucocorticoid, hypothermia, barbiturate coma

        - serious head injury management 이상 사용되지 않는다

   * Post-traumatic seizure

     1) early post-traumatic seizure

      1. within 24 - 48hr. after injury

      2. result from cbr. edema,petechial & hemorrhagic lesion,penitrating wound

      3. status epilepticus iv phenytoin recommand load 15 - 20mg/kg

         --> 5-10mg/kg/day (phenytoin dose not alter the level of consciousness

              in a neurologically compromised patient)

     2) late post-traumatic seizure

      1. within 2yr after injury

      2. severe original trauma to brain & dura disruption

         -- increased risk

      3. anticonvulsant prophylaxix ; 대부분은 필요치 않다

         , brief seizure(사고후 시간내) 제외

         입원동안 seizure attack ; anticonvulsant for 2-3mo

           --> if, seizure recur ; more prolonged period

      4. localized glial scar 의한 seizure ; unresponsive to anticonvulsant

          & require surgical extirpation


    ; ★▲Important Determinant Of Neurologic & Intellectual Recovery

    - *duration of coma

           - recovery from coma within 14days

           --> normal or near-normal cognitive & neuromotor function

   - 2 이하 infant with major brain trauma : poor Px

       ; 1. immature autoregulation of cbr.bl.vv.

         2. greater susceptibility of incompletely myelinated brain to

            irreversible injury

         3. open cranial suture -> greater distortion among meniges,cbr.vv.,

                                   underlying brain

   - most common cognitive sequela of significant head injury in child &

     adolescent : abnormality of short-term memory

                  (storage & retrieval of important information)

()- most sensitive & specific indicator of neurologic recovery during 

      acute & early stage of head injury

  --> evaluation with somatosensory evoked potentials

  * post-traumatic syndrome

    - may occur in children following relatively minor head trauma

    - cl/f ; hyperactivity, decreased attention span, temper outbursts,

             sleep disturbances, moodiness, and discipline problems.

             dizziness and headaches

Chapter 552. Neurodegenerative Disorders Of Childhood

 * hallmark

   ; progressive deterioration of neurologic function with loss of speech,

     vision, hearing, or locomotion, often associated with seizures,

     feeding difficulties, impairment of intellect

   * white matter involve - prominent UMN sg.

     gray matter involve - convulsion,intellectual,visual impairment

   * p1724, table 552-1

552.1 Sphingolipidoses

; intracellular storage of normal lipid component of the cell membrane owing to a defect in the catabolism of the compound

# subclassification of spingolipidoses

     1. Niemann-Pick disease

     2. Gaucher disease

     3. GM1 gangliosidosis

     4. GM2 gangliosidosis

     5. Krabbe disease

     6. Metachromatic leukodystrophy

Table 552-1


Gm1 Gangliosidoses

; AR

     * 3 subtypes

       +-  type 1 ; infantile

       +-  type 2 ; juvenile

       +-  type 3 ; adult

     * gene ; chr. 3p14.2

     * prenatal Dx ; measurement of acid β-galactosidase in

                     cultured amniotic cells

Infantile GM1 Gangliosidosis

    ; at birth or during neonatal period

         - anorexia, poor suck, inadequate weight gain

    ; retarded development, generalized seizures

    ; phenotype

           - *similar to Hurler syndrome

           - *coarse face, prominent forehead, depressed nasal bridge,macroglossia, hypertrophied gum

           - hepatosplenomegaly due to accumulation of foamy histiocyte

           - kyphoscoliosis : ant. beaking of vertebral bodies

    ; neurologic examination

         - apathy, progressive blindness, deafness, spastic quadripiegia, decerebrate rigidity

    ; cherry red spot in the macular region (50%)

         - opaque ring (sphingolipid-laden retinal ganglion cells)

       - encircling the normal red-colored fovea

    ; rarely survive beyond 2-3 yr of age

    ; cause of death - aspiration pneumonia

Juvenile GM1 Gangliosidosis

     1. delayed onset beginning about 1 yr of age

     2. initial symptoms

        ; incoordination, weakness, ataxia, and regression of language

     3. convulsions, spasticity, decerebrate rigidity, and blindness

     4. infantile typy과는 달리 H-Smegaly, coarse face 없다.

        but, radiology of lumbar vertebra may show minor beaking

     5. rarely survive beyond 10 yr

Adult GM1 Gangliosidosis

      slowly progressive disease -- spasticity, ataxia, dysarthria,

      gradual loss of cognitive function

GM2 Gangliosidoses

; AR

# subtypes

    1) Tay-Sachs disease (TSD)

  2) Sandhoff disease

  3) juvenile GM2 gangliosidosis

  4) adult GM2 gangliosidosis


    ; *gene on chromosome 15q23-q24

    ; *appear normal until approximately 6 mo of age

           - *except for a marked "startle" reaction to noise

    ; lag in developmental milestones

        - 1 yr of age, loses the ability to stand, sit, and vocalize

    ; early hypotonia

           --> progressive spasticity & relentless deterioration

    --> convulsions, blindness, deafness, cherry-red spots in almost all patients

    ; *macrocephaly by 1 yr of age due to 200-300-fold deposition of GM2 gangliosides

    ; few children live beyond 3-4 yr of age

        - cause of death : aspiration or bronchopneumonia

Sandhoff Disease

      1. similar to TSD ; progressive loss of motor & language milestones

         beginning at 6 mo of age

         seizure, cherry red spot, macrocephaly, doll-like facies

         (차이점 : splenomegaly)

      2. VEP : normal early in the course of Sandhoff disease & TSD

          --> become abnormal or absent as the disease progresses

         - auditory brain stem responses (ABRs) ; prolonged latencies

      3. 3세경 사망

  ()4. chromosome 5q 1.13

Juvenile GM2 Gangliosidosis

      1. develops in midchildhood

          ; initially with clumsiness followed by ataxia

      2. signs of spasticity, athetosis, loss of language, and seizures

      3. progressive visual loss is associated with optic atrophy

         (but, cherry red spots : rare)

      4. 15세경 사망

Adult GM2 gangliosidosis

      1. myriad of neurologic signs

         ; slowly progressive gait,ataxia, spasticity, dystonia,

           proximal muscle atrophy, dysarthria

      2. visual acuity & intellectual function : normal

Krabbe Disease (Globoid Cell Leukodystropy)

; AR

; *severe myelin loss & presence of globoid bodies in the white matter

; *gene on chromosome 14q21-q31

; *marked deficiency of lysosomal enzyme galactocerebroside β-galatosidase

Clinical Manifestation

# early-onset KD

    ; evident during the 1st few months of life

       - *excessive irritability & crying, unexplained episodes of hyperpyrexia, feeding problems, vomiting, failure to thrive

        - treated for colic or "milk allergy"

    ; generalized seizures

           - early in the course

    ; alterations in body tone with rigidity & opisthotonus & visual inattentiveness owing to optic atrophy

    ; later stages

           - blindness, deafness, absent DTR, decerebrate rigidity

    ; 2세경 expire

    ; non-enhanced CT scanning

           - *symmetric increased densities in the caudate nuclei and thalami

# late-onset KD

      1. beginning in childhood or during adolescence

      2. optic atrophy & cortical blindness

         (often confused with adrenoleukodystropy)

      3. slowly progessive gait disturbance (spasticity,ataxia)

      4. CSF exam : increase protein

         VEPs ;  decrease gradually in amplitude

                 with no response in the late stages of the disease

         ABRs ; presence of only waves I & II

         CT scans & MRI ; marked decrease in white matter

                          (esp. cerebellum & centrum semiovale),

                          with sparing of the subcortical u fibers

Metachromatic Leukodystrophy(MLD)

; disorder of myelin metabolism

; AR

; *deficiency of arylsulfatase A

; *gene on chromosome 22ql3-l3qter

# Pathophysiology

    ; *accumulation of cerebroside sulfate within myelin sheath of CNS & PNS

           --> myelin breakdown and destruction of oligodentroglia

Late infantile(classic) MLD

    ; *insidious onset of gait disturbance between 1 & 2 yr of age

    ; *initially awkward and frequently falls

       --> gradually locomotion is impaired

    ; *extremities : hypotonic & absent or diminished DTR

         --> next several months

                   : *cannot stand & deterioration in intellectual function

    ; speech - slurred & dysarthric

    ; dull and apathetic appearance

    ; *diminished visual fixation, nystagmus, optic atrophy

    ; 1yr after onset

           - *unable to sit unsupported & progressive decorticated postures

    ; pseudobulbar palsy -> impaired feeding,swallowing

    ; become stuporous & dies of aspiration or bronchopneumonia by 5-6 yr of age


    ; progressive changes in VEPs, ABRs, SSEPs, NCVs of the peripheral nerves

         - significantly reduced

    ; CT images

           - *diffuse symmetric attenuation of the cbll & cbr white matter

    ; CSF exam - elevated protein content


    ; *bone marrow transplantation

    ; treated very early in the course of the disease

           - favorable outcome

Juvenile MLD

     1. late infantile MLD와의 차이점

        : delayed onset of Sx ; 5-10 yr of age

     2. deterioration in school performance & alterations in personality

        --> incoordination of gait,urinary incontinence,dysarthria

     3. muscle tone becomes increased, and ataxia, dystonia,tremor

     4. during terminal stages

         : GTC convulsions - prominent & difficult to control

     5.midadolescence 이전에 expire

Adult MLD

     1. occurs from the 2nd to 6th decade

     2. abnormalities in memory,psychiatric disturbances,personality changes

        -- prominent features

     3. slowly progressive neurologic signs

        --> bedridden state (decorticate postures,unresponsiveness)

552.2  Neuronal Ceroid Lipofuscinoses

; *common class of neurodegenerative diseases

; AR

; *storage of autofluorescent substance within neurons & other tissues

Infantile type (Haltia-Santavuori)

    ; begins toward the end of the 1st year of life

           - *myoclonic seizures, intellectual deterioration, blindness

    ; *optic atrophy, brownish discoloration of the macula, cerebellar ataxia

    ; electroretinograrn (ERG) : small amplitude or absent wave forms

    ; 10 세경 사망

  ; gene defect ; chr. 1p32

Late infantile (Jansky-Bielschowsky)

    ; *common type

  ; 2 - 4 yr : myoclonic seizures

  dementia,ataxia,progressive loss of visual acuity & microcephaly

  retina : marked attenuation of vessels, peripheral black "bone spicule"

           pigmentary abnormalities, optic atrophy, subtle brown pigment

           in the macular region

  ERG : abnormal early in the course

   (owing to deposition of the abnormal storage substance within the rod

     & cone area of the retina)

  VEP : markedly enlarged responses followed by absent wave forms

        with progression of the disease

  E.M exam of the storage material in skin or conjunctival biopsies

  - curvilinear bodies or "fingerprint profiles"

Juvenile Type (Spielmeyer-Vogt)

    1. progressive visual loss & intellectual impairment beginning

            between 5 - 10 yr

    2. funduscopic change & ERG ; similar with late infantile type

    3. VEP : small-amplitude waves,

             later, absence of wave forms as the disease progresses

    4. myoclonic seizure ; not prominent as in the late infantile type

    5. dystonic posturing ; marked during the late stages

    6. increased urine dolichol level ; nonspecific finding

    7. ultrastructural abnormalities of skin biopsy - present in most case

()8. gene ; ch. 16p 12.1

552.3 Adrenoleukodystrophy

; a group of CNS degeneratire disorders asso. with adrenal cortical insufficiency & X-linked recessive transmission

Classic adrenoleukodystrophy (ALD)

    ; start symptomatic between 5 - 15 yr

           - *academic deterioration, behavioral disturbance, gait abnormality

    ; generalized seizure common in early stage

    ; UMN sign

           - *spastic quadriparesis, contracture, ataxia, marked swallowing disturbance due to pseudobulbar palsy

    ; hypoadrenalism(50%)

         - *abnormal skin pigmentation neurologic sx. onset전에 나타날수도 있다

    ; CT scan & MRI

           - *periventricular demyelination beginning posteriorly, which advances progressively to the ant.regions of the cerebral white matter

    ; ABRs,VEPs,SSEPs

           - normal initially

            --> ultimately prolonged latencies & abnormal wave forms

    ; neurologic sg. onset 10 이내 사망

  ; gene on chromosome Xq28


   1. slowly progressive spastic paraparesis, urinary incontinence,

      impotence during the 3rd or 4th decade

   2. adrenal insufficiency -  childhood 부터 나타남

   3. X-linked ADL management 어려운

        -- 같은 family내에서도 다른 임상 경과

    ex) one affected male ;  death by age 10 yr,

        another affected male ; late-onset adrenomyeloneuropathy,

        third ; no symptoms

Neonatal Adrenoleukodystrophy

   1. marked hypotonia,severe psychomotor retardation,early onset of seizures

   2. A.R

   3. visual inattenlion 2' to optic atrophy

   4. adrenal function tests : normal,

      but post-mortem exam : adrenal atrophy is evident

   5. correction of adrenal insufficiency

       - ineffective in halting neurologic deterioration

552.4 Sialidosis

  - A.R

  - accumulation of sialic acid-oligosaccharide complex 2' to a deficiency in

    lysosomal enz. neuraminidase

  - urinary excretion of sialic acid-contaning oligosaccharide increase

  1) Type 1

   - coined with cherry-red spot - myoclonus synd.(CRSM)

   1. 2nd decade ; visual deterioration

   2. retina ; cherry red spot but TSD와는 달리, visual acuity declines slowly

   3. myoclonus of extrem. - gradually progressive & debilitating

       -> nonambulatory

      - triggered by voluntary movement,touch,sound

      - not controlled with anticonvulsants

   4. generalized convulsions responsive to antiepileptic drugs

      have been reported in most patients.

  2) Type 2

   1. onset age 따라  infantile & juvenile form

   2. cherry red spots,myocIonus,somatic involvement(coarse facial features,

      corneal clouding,dysostosis multiplex,ant. beaking of lumbar vertebrae)

   3. lymphocyte exam - vacuoles in cytoplasm

      liver biopsy - cytoplasmic vacuoles in Kupffcr cells

      membrane-bound vacuoles are found in Schwann cell cytoplasm

()4. some cases

     - result of combined deficiencies of β-galactosidase and α-neuraminidase

      due to deficiency of a "protective protein"

     - Sx. isolated α-neuraminidase deficiency DDx하기 어렵다.

552.5 Miscellaneous Disorders

Multiple Sclerosis

; chronic & remitting disorder characterized by white matter lesions in the CNS separated by time and location

; rare in pediatfic population(onset before 10 yr ; 0.2-2% of all cases)

; greater female incidence than adult group

Clinical Manifestation

    ; *unilat. weakness or ataxia

           - *frequent presenting Sx

    ; headache

           - important early component of the disease,severe,prolonged, and generalized

    ; ill-defined paresthesias involving lower extremities, distal portions of the hands & feet, and face -- common

    ; visual sx

           - *diplopia, blurred vision, or sudden visual loss due to optic neuritis

           - early manifestations

  ; vertigo, dysarthria, sphincter disturbances

           - relatively uncommon

    ; Neuromyelitis Optica (Devic Disease)

    - variant of classic MS

           - *optic neuritis & transverse myelitis


     1. demyelination with the formation of plaques

     2. confirms diagnosis - autopsy finding

     3 MRI :neuroimaging technique of choice; small plaques of 3-4 mm

            (brain stem and spinal cord)

    3) treatment

      - supportive; neurogenic bladder management

                    corticosteroids -> long-term course 에는 영향이 없으나

                    acute attack recovery 효과적

 () - interferon β-lb sc ; decreasing disease activity & disease burden

    4) prognosis : 성인과 유사

        recovery is often complete, and  progression of the disease tends

        to be slow with long periods of remission in most cases

Pelizaeus-Merzbacher Disease

; group of disorder characterized by nystagmus & abnormalities of myelin


    ; *gene on chromosome Xq22

    ; classic form : X-linked recessive trait

Clinical Manifestation

    ; nystagmus & roving eye movement with head nodding during infant

  ; delayed development, ataxia, choreoathetosis, spasticity

    ; optic atropy & dysarthria

  ; 2nd or 3rd decade expire


    ; molecular Dx : mutation analysis 이용하여 할수 있다

  ; pathologic finding

     - loss of myelin with intact axons(defect in function of oligodendroglia)

    ; MRI scan

           - *symmetric pattern of delayed myelination

    ; multimodal evoked potential study ; early stage - loss of waves III-V on the ABR

    ; VEPs ; prolonged latencies

  ; SSEPs ; absent cortical responses or delayed latencies

Alexander Disease

     - progressive macrocephaly during the 1st year of life

     - pathologic exam of brain ; deposition of eosinophilic hyaline bodies

        in a perivascular distribution throughout the brain

         and beneath the pia matter, white matter degeneration

          - most prominent in the frontal lobes

     - CT scan ; corresponding attenuation of the cerebral white matter

     - progressive loss of intellect, spasticity,

       and unresponsive seizures causing death by 5 yr of age

Canavan Spongy Degeneration

Menkes Disease

(kinky hair disease)

    - sex-linked recessive trait ; defect in copper absorption & transport

       across the gut

    - progressive neurodegenerative condition

    - gene ; ch Xq12-q13

    1) Cl/f

     1. hypothermia,hypotonia,generalized myoclonic seizures

         ; begine at 1st few months

     2. distinctive facies ; chubby,rosy cheeks,kinky,colorless,friable hair

        (microscopic exam of hair : trichorrhexis nodosa & pill torti)

     3. feeding difficulty --> FTT

     4. severe M.R. & optic atrophy ; constant features

    2) Lab/f ; low serum copper & ceruloplasmin

    3) Neuropathologic changes

     1. tortuous cbr vv. 2' to defects in the intima

     2. focal degeneration of the gray matter

     3. marked changes in the cbll with loss of the internal granule cell layer

        and necrosis of the Purkinje cells

    4) Death - 3 yr of age (untreated patient)

    5) Tx

     1. Copper histidine therapy

        ; effective in preventing neurologic deterioration in some patients

         (particularly if treatment is begun during the neonatal period)

     2. Copper-histidine SC (50-150 μg elemental copper/kg/24hr)

        for the duration of the child's life

        -->  Tx 2-3 serum copper & ceruloplasmin levels 정상화

     * occipital horn syndrome

       - skeletal dysplasia caused by different mutations in the same gene

         as that involved in Menkes disease

       - mild disease

Rett Syndrome


  - incidence : 15,000 , only female

  1) Cl/f

   1. about 1 yr, regression of language & motor milestones ,

       acquired microcephaly

   2. early neurologic finding ; ataxic gait,fine tremor of hand movement

   3. peculiar sighing,respirations with intermittent periods of apnea

      associated with cyanosis

   4. hallmark : repetitive hand-wringing movements & loss of purposeful

       and spontaneous use of the hands(2-3 이후에 나타남)

   5. autistic behavior : typical finding

   6. GTC convulsions occur in the majority - well controlled by anticonvulsants

   7. feeding disorders & poor weight gain

()8. death : during adolescence or 3rd decade

()9. cardiac arrhythmias - sudden,unexpected death

()10. postmortem : brain weight(60-80% of normal)

                     decrease in the number of synapses

                     decrease in dendritic length and branching

Subacute Sclerosing Panencephalitis(SSPE)

; *rare, progressive slow-virus infection of the CNS caused by a measles-like virus

Clinical Manifestation

  ; *initially personality changes, aggressive behavior, impairment of cognitive function

    ; *myoclonic seizures

           --> GTC convulsions, hypertonia, choreoathetosis

           --> progressive bulbar palsy, hyperthermia, decerebrate postures

    ; papilledema(20%)

    ; mostly optic atropy, chorioretinitis, macular degeneration

    ; symptom oneset 1-2 이내 사망


# Typical Clinical Course & One Of The Following

  ; measles antibody detected in the CSF

  ; EEG

           - bursts of high-voltage slow waves interspersed with a normal background in the early stages

    ; typical histologic findings in the brain biopsy or postmortem specimen

Chapter 553. Acute Stroke Syndromes

# Pediatric Causes Of Stroke

  1) arterial & venous thrombosis 

  2) ICH

  3) mbolism

  4) 기타

553.1 Arterial Thrombosis

 1) thrombosis of internal carotid a.

   - result from blunt trauma due to fall on pencil or popsidestick

        in the child's month

     --> tear in the intima of vv.wall

     --> dissecting aneurysm

   -sx. 1.delayed up to 24hr.following accident

        2.stuttering but progressive flaccid hemiplegia,lethargy aphasia

        3.focal motor seizure:common cx.

 2) retropharyngeal abscess

   - inflammation of intima --> arterial thrombosis

   - cbr.angiogram:occlusiion of int.carotid a.

   - CT scan:hypodense lesion

 3) cyanotic congenital heart disease

   - below 2hr-->thrombosis of mid.cbr.a.

 4) collagen vascular disease(LE,PAN)

 5) basal arterial occlusion without telangiectasia

 6) basal arterial occlusion with telangiectasia(Moyamoya Ds)

   1.more common in girls

   2.severe headache,bilat.UMN signs,chorea

   3.Px.for recovery:poor

   4.intermittent episodes of transient ischemic attack coupled with neurologic

      signs & severe diability

   5.Cbr.angio:idiopathic supraclinoid internal carotid arteriopathy

   6.surgical procedure:to enhance cbr.blood flow

 7) occlusion of distal artery

   - DM,neurofibromatosis,sickle cell disease,IV drug abuse

 8)thrombosis of small arteries:PAN,homocystinuria

553.2 Venous Thrombosis/Embolism

   * hemiplegia원인

   1) bact.meningitis

     --> thrombosis of superficial cortical & deep penetrating V.

     --> hemiplegia

   2) otitis media,mastoiditis,cavenous sinus thrombosis

   3) severe dehydration during infancy-->thrombosis of sup.sagittal sinus

     & superf.cortical vein

   4) conditions causing hypercoagulopaathy,cyanotic CHD,leukemic infiltrates

     of cbr.veins


   * embolization of cbr.vv

    : rare in children

   * cardiac cause include arrhythmias(atrial fibrillation), myxoma,


    --> mycotic aneurysm,paradoxical emboli through PFO

  * air embolism(after surgery),fat embolism(after long bone fx.),

    septic embolism

553.3 Intracranial Hemorrhage

Arteriovenous Malformation

; failure of normal capillary bed development between arteries & veins during embryogenesis

    --> abnormal shunting of blood

    --> expansion of vessels,space-occutying effect , rupture of vein & intracerebral bleeding

; location

    - cerebral hemispheres

    - cerebellum, brain stem, spinal cord

Clinical Manifestation

    ; *history of migraine-like headaches

           - *remain on same side

           - typical migraine from one side to the other side

    ; auscultation of skull

           - high-pitched bruit(50%)

  ; rupture of AVM

           --> severe headache,vomiting, nuchal rigidity due to SAH, progressive hemiparesis, focal or generalized seizure

AVM of vein of Galen during infancy

    1. high-output CHF 20 to shunting of large volumes of blood

    2. progessive hydrocephalus

    3. increase ICP due to obst.of CSF pathway

Cerebral Aneurysm

# adult와의 차이점

  ; tend to be large

  ; located at *carotid bifurcation

           or *on the ant. & post. cerebral artery rather than circle of Wills

    ; *association with CoA & bilateral polycystic kidney disease

    ; others causes

           - congenital weakness of vessels

    - deficiency of type III collagen 

★종류 553.4 Miscellaneous Causes Of Stroke

Alternating Hemiplegia Of Childhood

Metabolic Diseases

   ; mitochondrial encephalomyolopathy(e.g. MELAS), ornithine transcarbamylase deficiency, pyruvate dehydrogenase deficiency, homocystinuria

Todd Paralysis

Cerebral Tumor


Focal Postviral Encephalitis

Lipid Abnormalities

Chapter 554. Brain Abscess

; *common between 4 and 8 yr

# Predisposing Conditions

    ; congenital heart disease with right to left shunts

  ; meningitis, chronic otitis media, mastoiditis, soft tissue infection of the face or scalp, orbital cellulitis, dental infections

    ; penetrating head injuries, immunodeficiency states, infection of ventriculo-peritoneal shunts

# site

  ; *80% divided equally between frontal,parietal,temporal lobes

    ; 20% occipital lobe, cerebellum, brain stem

# abscess pattern

    ; mostly single

  ; 30% multiple(involve more than one lobe)

    ; frontal lobe abscess

       - extension from sinusitis or orbital cellulitis

  ; temporal lobe abscess or cerebellum

       - frequently associated with chronic otitis media & mastoidltis


    ; S. aureus

    ; streptococci (viridans, pneumococci, microaerophilic)

    ; anaerobic organisms (gram-positive cocci, Bacteroides spp, Fusobacterium spp, Prevotella spp, Actinomyces spp, and Clostridium spp)

    ; gram-negative aerobic bacilli (enteric rods, Proteus spp, Pseudomonas aeruginosa, Citrobacter diversus, and Haemophilus spp)

# culture

   1 organism : 70%

   2         : 20%

   3         : 10%

# *mucosal infections (sinusitis) ; anaerobic bacteria

Clinical Manifestations

  ; early stages

           - nonspecific symptoms

         - low-grade fever, headache, lethargy

  ; inflammatory process proceeds

        - vomiting, severe headache, seizures, papilledema, focal neurologic signs (hemiparesis), coma

    ; cerebellar abscess

           - nystagmus, ipsilateral ataxia, dysmetria, vomiting, headache

    ; ruptures into the ventricular cavity

        - overwhelming shock & death


  1) WBC ; normal or elevated

  2) blood culture ; positive in only 10%

  3) CSF

           ; variable results

       ; minimally elevated or normal WBC, protein

       ; slightly low glucose

       ; rarely positive cultures

        ; *seldom useful

             / *cerebellar tonsils herniation 야기 가능하므로 brain abscess suspect 환자는 시행하지 않는다.

  4) EEG

    ; corresponding focal slowing

  5) radionucleotide brain scan

       ; area of enhancement due to disruption of the BBB(greater than 80% of cases)

  6) CT

    ; cerebritis - parenchymal low-density lesion

    ; abscess cavity - ring-enhancing lesion

 7) MRI

    ; increased signal intensity in T2-weight image

    ; abscess capsule with gadolinium administration


      1. initial management

         ; prompt diagnosis & institution of antibiotic regimen

      2. cause - unknown

         ; combination of nafcillin or vancomycin with a third-generation

            cephalosporin and metronidazole

      3. penitrating injury,head trauma,sinusitis

         ; combination of nafcillin or vancomycin,cefotaxime,metronidazole

      4. lesion resulting from cyanotic heart disease

         ; penicillin and metronidazole

      5. secondary to infected ventriculo-peritoneal shunt

         ; vancomycin and ceftazidime

      6. otitis media or mastoiditis

         ; nafcillin or vancomycin in combination with ceftazidime

            and metronidazole

      7. citrobacter meningitis

         ; third-generation cephalosporin & aminoglycoside

      8. immunocompromised patient

         ; broad antibiotic coverage and amphotericin B

      9. early stages of cerebritis or with multiple abscesses

         ; antibiotics alone

     10. encapsulated abscess

         (particularly if the lesion is causing a mass effect or IICP)

         ; combination of antibiotics and aspiration

     11. OP Ix

        - gas is present in the abscess

        - multiloculated

        - located in the posterior fossa

        - fungus identification 될때

     12. associated infectious processes

       (mastoiditis, sinusitis,periorbital abscess)

         --> surgical drainage

     13. duration of antibiotic therapy

     ; usually requires 3-4 wk


     1. mortality ; 5-10%

       (with the use of CT or MRI and prompt antibiotic and surgical management)

     2. factors associated with high mortality at the time of admission

         - multiple abscesses

         - coma

         - lack of CT facilities

     3. long-term sequelae ; at least 50% of survivors

         - hemiparesis, seizures, hydrocephalus, cranial nerve abnormalities,

           behavior and learning problems

Chapter 555.  Brain Tumors In Children

     - second most prevalent malignancy in childhood(leukemia > brain tumor)

     - the most common solid tumors in childhood

     - metastatic brain tumors ; rare in the child


     - infratentorial tm > supratentorial tm

      ( except 2yr. 이하, adolescent;equivalent)

     - 2-12yr intracranial tm 2/3 ; infratentorial tm

Pathology And Pathogenesls

# 2 major histologic types of brain tumors in children

  1) glial cell tumors

  2) primitive neuroectodermal cell origin tm

Glial Ceil Tumors

        - the most common & variable prognoses

          1. astrocytoma

          2. ependymoma

          3. glioblastoma multiforme

Neuroectodermal Tumors

          1. medulloblastoma(cerebellum)

          2. pineoblastoma(cerebrum, spinal cord, pineal gland)

() * gliomas - deletion of 17p

       high-grade glioma - loss of 9p

       glioblastoma multiforme - loss of a portion of chromosome l0

       meningioma - loss of a portion of chromosome 22

       medulloblastoma - loss of a segment of 17p

                         (not related to the p53 tumor suppressor gene)

() * glioma - epidermal growth factor (EGFR)

       meningioma - alteration of platelet-derived growth factor receptor

            & increased expression of its ligand, platelet derived growth factor

Clinical Manifestations

     +- infratentorial tm(post.fossa위치시) - Sx & Sg of IICP & hydrocephalus

     +- supratentorial tm - focal abnormalities(long-tract signs & seizures)

Alterations In Personality

    1. 1st symptoms of brain tumor

    2. lethargic, irritable, hyperactive, forgetful, perform poorly academically

    3. tm remove ICP control 되면 significant reversal of behavioral problem


    ; headache, vomiting, diplopia, papilledema

           - bulging fontanel & increasing head size (macrocrania) in infancy

    ; headache

           - *in the morning, relieved with standing

           - *dull, generalized, steady

           - maybe intermittent & worsening by coughing, sneezing, defecation

           - associated with vomiting : relieves headache

    ; associated forth ventricle tumor

    ; nystagmus,vital sign change(bradicardia,irregular pulse, systemic hypertension, alteration in resp.pattern)

Focal Neurologic Sign

    ; hemiparesis,complex partial seizure(temporal lobe tm)

      obscuration of vision(blurring) - indicate marked vasoconstriction of

      abr.vv. & impending cbll herniation

     ()visual loss -> optic tract glioma or inpingement of pituitary

         or suprasellar masses on optic chiasm   


     - post. fossa tm.

     - cbll vermis tm. - truncal ataxia

     - cbll hemisphere tm. - ipsilat. extrem. ataxia & dysdiadochokinesia

Infratentorial Tumors

Cerebellar Astrocytoma

    ; *common post. fossa tumor of childhood

    ; *best prognosis

    ; location

           - midline involving the vermis

       - confined to a hemisphere(cerebellar peduncles invasion 가능)

    ; Clinical Manifestation

           - hydrocephalus

       - symptoms & sign of IICP

    ; histology

           - protoplasmic & fibrillary astrocytes arranged in a radial fashion interspersed with Rosenthal fibers

    ; Tx & Px

           - surgical resection(5yr survival > 90%)

    - RTx / high-grade astrocytomas or postop tumor progression 있는 경우


    ; *2nd common post fossa tumor

        - *prevalent brain tumor under 7yr

    ; *spread over the cerebral convexities or along the CSF pathyways & extracranial metastasis

  ; location 

           - roof of 4th ventricle & grows rapidly to fill 4th ventricle or invade the adjacent cerebellar hemisphere

    ; histology

           - vascular & cellular

    - 92 deeply staining nuclei with scant cytoplasm arranged in pseudorosettes

  ; Diagnosis      

           - MRI

    - CT myelography

    ; Tx & Px 

           - surgical extirpation & irradiation

                  (small tumors & no evidence of dissemmation 5YSR ; 70%)

    - postop residual tm or evidence of neuraxis dissemination

                    -> CTx 병용(survival 60%)

                    ; vincristine, cyclophosphamide, cisplatinum, etoposide

           - less than 2 yr -- poor prognosis

Brain Stem Glioma

    ; 3rd most frequent post fossa tumor in children

  ; 2 types

       - anaplastic astrocytoma

                   / diffuse infiltration in the pons extending throughout the brain stem

           - low-grade focal tumor in midbrain & medulla

                   / excellent survival rates

    ; Clinical Manifestation

           - cranial nerve sx

            abducens and facial nerve involve -> diplopia, facial weakness

            cranial nuclei in the medulla -> dysarthria, dysphagia, dysphonia

    - pyramidal tract sx

           : gait disturbances,generalized upper motor neuron signs

    - changes in personality : common

             - lethargy, irritability, aggressive behavior

    - IICP sx(late in course) - papilledema

  ; Tx & Px  

        1. surgical tx - controversial

        2. primary treatment - irradiation(5YSR;20%)

           최근 high dose(7000rad) of hyperfractionated radiation therapy

            (smaller, more frequent doses)

        3. chemotherapy - not effect

        4. low-grade focal tm of midbrain or medulla ;

            after radical excision - excellent prognosis


      - 10% of childhood post fossa tumors

      - arise from within 4th ventricle

      - cl/m

         1. hydrocephalus

         2. sg of IICP (vomiting, headache, diplopia)

         3. herniation of cbll tonsils - nuchal rigidity, torticollis

         4. ataxia, focal neurologic signs ; usually absent

         5. papilledema : consistent finding in the symptomatic child

      - histology

         ; rosettes of ependymal cells with cilia protruding into central cavity

      - treatment

         1. surgical removal & radiation therapy to tm region(5YSR;50%)

         2. aggressive anaplastic ependymoma

               ; entire craniospinal region radiation


; benign tm (choroid plexus papilloma of 4th ventricle, dermoids,

                           epidermoids, chordomas, teratomas)

Supratentorial Tumors


    ; *common supratentorial tumors in children

    ; location 

           - confined to sella turcica

    - can extend through the diaphragma sella

                     --> optic nerve system, pons, 3rd ventricle compress

                     --> hydrocephalus

      - histology ; consists of solid & cystic areas - tendency to calcify

    ; 92 Clinical Manifestation

       - plain skull X-ray, CT scan

                   / *90% calcification

           - short stature due to pituitary-hypothalamic involvement

    - bitemporal visual field defects

    - papilledema & Sx of IICP -

    ; Tx & Px

        - craniotomy using subfrontal approach