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Byler disease Familial intrahepatic cholestasis, with early onset of loose, foul-smelling stools, jaundice, hepatosplenomegaly, and dwarfism, due to an error in conjugated bile salt metabolism; autosomal recessive inheritance.
Origin: Byler, an Amish kindred
(05 Mar 2000)
caffey disease <radiology> Infantile cortical hyperostosis, aetiology unknown, onset before 5 months of age, hyperostosis and periosteal reaction, mandible (80-95%), clavicles, ribs, long bones (DIAPHYSES often asymmetric) Differential diagnosis: if metaphyses involved, consider battery (child abuse)
(12 Dec 1998)
Caffey's disease Neonatal subperiosteal bone formation over many bones, especially the mandible and clavicles and the shafts of long bones; it follows fever, usually appearing before 6 months of age and disappearing during childhood.
Synonym: Caffey's disease, Caffey's syndrome, Caffey-Silverman syndrome.
(05 Mar 2000)
caisson disease See: decompression sickness
Origin: Fr. Caisson (fr. Caisse, a chest) a water-tight box or cylinder containing air under high pressure used in sinking structural pilings underwater
(05 Mar 2000)
calcium pyrophosphate deposition disease <radiology> Manifestations can occur singly or in any combination, pseudogout, acute crystal-induced synovitis with clinical symptoms analogous to gout, arthropathy, beaklike osteophytes of 2nd, 3rd metacarpal heads, subchondral cysts (especially carpal bones), unusual distribution of disease (radiocarpal/ulnar joint, patellofemoral joint), SLAC - scapholunate advanced collapse, chondrocalcinosis, triangular fibrocartilage, symphysis pubis, menisci of knee, annulus fibrosus of intervertebral disk
(12 Dec 1998)
Calve-Perthes disease perthes disease
camurati-engelmann disease <radiology> Sclerosing diaphyseal dysplasia, does not involve metaphysis, epiphysis, or bone marrow cavity Cf: Albers-Schoenberg disease
(12 Dec 1998)
canavan disease Spongy degeneration of cerebral white matter, a rare autosomal recessive form of leukodystrophy. It is characterised by early onset, widespread demyelination and vacuolation of the white matter that gives rise to a spongy appearance, severe mental retardation, megalocephaly, atony of the neck muscles, spasticity of the extremities, and blindness. Death occurs at about 18 months of age.
(12 Dec 1998)
Canavan's disease Autosomal recessive degenerative disease of infancy; mostly in Jewish infants; onset typically within first 3-4 months of birth, consisting of blindness, psychomotor regression, enlarged head, optic atrophy, hypotonia, spasticity, increased N-acetylaspartic acid urinary excretion. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles. Pathologically, there is increased brain volume and weight, and spongy degeneration in the subcortical white matter.
See: leukodystrophy.
Synonym: Canavan's sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancy.
(05 Mar 2000)
Canavan-van Bogaert-Bertrand disease Autosomal recessive degenerative disease of infancy; mostly in Jewish infants; onset typically within first 3-4 months of birth, consisting of blindness, psychomotor regression, enlarged head, optic atrophy, hypotonia, spasticity, increased N-acetylaspartic acid urinary excretion. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles. Pathologically, there is increased brain volume and weight, and spongy degeneration in the subcortical white matter.
See: leukodystrophy.
Synonym: Canavan's sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancy.
(05 Mar 2000)
cancer, hodgkin's disease A type of lymphoma (cancer of the lymphatic system). The most common symptom of Hodgkin's disease is a painless swelling in the lymph nodes in the neck, underarm, or groin. Hodgkin's disease is diagnosed when abnormal tissue is detected by a pathologist after a biopsy of an enlarged lymph node. Treatment usually includes radiation therapy or chemotherapy. Regular follow-up examinations are important after treatment for Hodgkin's disease. Patients treated for Hodgkin's disease have an increased risk of developing other types of cancer later in life, especially leukaemia.
(12 Dec 1998)
canine parvovirus disease An acute disease of dogs with a variable mortality rate caused by the canine parvovirus; seen in three distinct clinical forms; a generalised neonatal disease, a severe nonsuppurative myocarditis, and a frequently fatal enteritis.
(05 Mar 2000)
carcinoid heart disease Cardiac manifestation of malignant carcinoid syndrome. It is a unique form of fibrosis involving the endocardium, primarily of the right heart. The fibrous deposits tend to cause constriction of the tricuspid and pulmonary valves.
(12 Dec 1998)
caroli disease <radiology> Communicating, cavernous ectasia of the intrahepatic bile ducts, rare, autosomal recessive, usually detected in young adults, no cirrhosis or portal hypertension, predisposed to calculus formation, benign course, but.. Recurrent cholangitis most likely to be liver abscesses most likely to be death, associated with medullary sponge kidney (renal tubular ectasia) in 80%
(12 Dec 1998)
caroli's disease Congenital cystic dilatation of the intrahepatic bile ducts. It consists of 2 types: simple, with bile duct dilatation or ectasia alone, and complex, with associated extensive hepatic fibrosis and portal hypertension. Benign renal tubular ectasia is associated with both types.
(12 Dec 1998)
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