| refsum disease | A chronic progressive peripheral neuropathy which is probably inherited in an autosomal recessive manner. Some of the manifestations of this disorder are atypical retinitis pigmentosa, cerebellar ataxia, and increased cerebrospinal protein levels. Excessive phytanic acid storage has been found in most cases. Onset of symptoms usually occurs in early childhood. Infantile refsum disease (see peroxisomal disorders) differs in that it also includes mental retardation, dysmorphic features, peroxisomal deficiency, and very early onset. (12 Dec 1998) |
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| refsum's disease | A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain (cerebellar ataxia). (12 Dec 1998) |
| disease, refsum's | A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain (cerebellar ataxia). (12 Dec 1998) |
| Refsum, Sigvald | <person> Norwegian neurologist, *1907. See: Refsum's disease, Refsum's syndrome. (05 Mar 2000) |
| Refsum's syndrome | A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain (cerebellar ataxia). (12 Dec 1998) |
| infantile coeliac disease | Gluten-sensitive enteropathy appearing in infancy, often before the age of 9 months and characterised by acute onset, diarrhoea, abdominal pain, and "failure to thrive." (05 Mar 2000) |
| aggressive infantile fibromatosis | A childhood counterpart of abdominal or extra-abdominal desmoid tumours, characterised by firm subcutaneous nodules that grow rapidly in any part of the body that invade locally and recur but do not metastasize. (05 Mar 2000) |
| autism, infantile | A syndrome beginning in infancy and characterised by a lack of responsiveness to other people, gross impairment in verbal and nonverbal communication skills, and bizarre responses to the environment. (12 Dec 1998) |
| progressive infantile spinal muscular atrophy | Transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first two years of life. Three groups, based on age of clinical onset, are recognised. Synonym: familial spinal muscular atrophy, Hoffmann's muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann muscular atrophy. (05 Mar 2000) |
| spasms, infantile | Primary generalised epileptic seizures occurring in infants between birth and twelve months of age consisting of brief synchronous contractions of the neck, torso, and both arms. These seizures often occur in infants with underlying neurologic diseases. The prognosis for these infants is grave, with approximately ninety percent developing mental retardation in addition to their seizures. The eeg has a typical hypsarrhythmia pattern. The spasms and hypsarrhythmia have a tendency to disappear over the first three to five years of life, only to be replaced by other forms of generalised seizures. Infantile spasms sometimes respond to valproic acid or acth. (12 Dec 1998) |
| supravalvar aortic stenosis-infantile hypercalcaemia syndrome | <syndrome> Supravalvar aortic stenosis associated with elfin facies, mental retardation, and hypercalcaemia; usually sporadic; perhaps an irregular dominant trait. (05 Mar 2000) |
| diffuse infantile familial sclerosis | <radiology> Dysmyelinating disease, autosomal recessive, usually presents by 1 yr, specific enzyme deficiency identified, rapid spontaneous nystagmus, poikilothermia Synonym: Krabbe leukodystrophy (12 Dec 1998) |
| infantile | Pertaining to an infant or to infancy. Origin: L. Infantilis (18 Nov 1997) |
| infantile acute haemorrhagic oedema of the skin | A generally benign form of cutaneous vasculitis, characterised by ecchymotic purpura, often in a cockade pattern, and inflammatory oedema in infants. (05 Mar 2000) |
| infantile autism | A severe emotional disturbance of childhood characterised by qualitative impairment in reciprocal social interaction and in communication, language, and social development. Synonym: autistic disorder, childhood schizophrenia, early infantile autism, Kanner's syndrome. (05 Mar 2000) |