Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An ophthalmological study was conducted on a series of 28 Swedish children suffering from mild mental retardation without an obvious aetiological diagnosis. The eye examination supported a diagnosis of foetal alcohol syndrome in five out of six suspected cases and revealed two additional not previously suspected (25%). Eye anomalies were observed in 16 patients (57%) with fundus abnormalities (optic nerve hypoplasia, retinal dystrophy) being most frequent, occurring in 11 cases (39%). Four patients had substantially reduced visual acuity in both eyes. Eight children had abnormal features of the face and outer eye region. Ocular motility disturbances (strabismus or nystagmus) were seen in five patients. The ophthalmological study disclosed that at least 10% of this group of children with mild mental retardation suffered from the foetal alcohol syndrome. It is concluded that, in children with mental retardation, an ocular examination is a valuable diagnostic tool for revealing prenatal origin.
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PMID:Contribution of ocular examination to the diagnosis of foetal alcohol syndrome in mentally retarded children. 226 51

In 1975, we reported two brothers with epiphyseal dysplasia, microcephaly, and nystagmus; one of them also had mild mental retardation. Here we present information on the natural history, particularly with respect to the development of a new visual problem, namely, retinitis pigmentosa.
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PMID:Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa. 280 68

Ataxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X-linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2-3 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X-linked spinocerebellar ataxia and X-linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X-linked ataxia are discussed: genetic heterogeneity is apparent from observations reported.
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PMID:Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia. 281 91

We describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal. This appears to be the second example of the syndrome first described by Lowry and Wood [1975] in two boys who had epiphyseal dysplasia, short stature, microcephaly, and nystagmus; one of these patients was mildly mentally retarded. The Lowry-Wood syndrome probably is an autosomal recessive trait.
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PMID:Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome. 370 11

A recombinant chromosome change with dup(2)(q34----qter) secondary to a paternal inv(2) (pter----q34) was found in a 19-year-old boy and his 12-year-old sister. Both were born at term with normal birth weight and head circumference. Hypertelorism, irregular nystagmus, broad flat nasal bridge, and short beaked nose with anteverted nostrils were noted neonatally. Both developed microcephaly and brachycephaly. Cardiac, urogenital, retinal, and optic disc anomalies and onset of progressive kyphosis in adolescence were detected. Their facial appearance, with birdlike "Muppet Gonzo" features, was increasingly accentuated with age. Both had mild mental retardation with IQ's around 70. The clinical findings in these siblings were compared with those described in 23 cases with various 2q partial trisomies. The results of the present study and previous studies indicate a characteristic clinical presentation in children and adults. The reluctance to define the specific phenotype for distal 2q trisomy might be due to the fact that the clinical features tend to be considerably more pronounced towards adolescence than neonatally.
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PMID:Delineation of a characteristic phenotype in distal trisomy 2q. 654 60

Cytochrome c oxidase (CCO) deficiency is associated with various types of mitochondrial encephalomyopathy. The enzyme activities in different tissues and organs are varied. We report an 11-year-old girl with CCO deficiency, who presented with nystagmus, ptosis and optic atrophy. Her younger sister died of respiratory failure at 7 years of age and had the same initial clinical manifestations. Their parents were consanguineous. The girl had mild mental retardation and frequent premature ventricular contractions. Brain magnetic resonance imaging of the patient on admission revealed multiple lesions in both the gray and white matter. Except for arrhythmia and marked right axis deviation of the heart on electrocardiography, no other evidence of cardiac involvement was noted. Although a muscle biopsy was normal for both histochemical stains and electron microscopy, the enzyme assays in cultured skin fibroblasts revealed partial CCO deficiency, which may explain the clinical presentations.
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PMID:Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. 891 62

Cerebellar vermis aplasia (ACV, OMIM 117360) is a rare malformation of the cerebellum, with only few familial patients reported so far. Main clinical features of this rare disorder include floppiness and delayed milestones in early infancy, preceding mild cerebellar ataxia, non-progressive clinical course, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective involvement of the cerebellum, which is prominent in the vermis. Because of the large preponderance of female patients, X-linked dominant transmission was suggested by [Fenichel and Phillips (1989); Arch Neurol 46:582-583], and subsequent reports only concern female patients. Only one family with male-to-male transmission presenting with a generalized atrophy of the cerebellum rather than a more localized vermis aplasia has been reported so far. We report on a family in which father and son are affected by a mild form of ACV, thus confirming an autosomal mode of inheritance of the disease. Our patients showed a progressive improvement of their motor abilities, neurological examination of the father being actually normal except for a mild mental retardation. We also evaluated the potential role of two candidate genes, EN2 and ZIC1, responsible for abnormal cerebellar development in murine knock-out models. However, molecular analysis failed to reveal any causative mutation in the coding sequence of the two genes in our patients. The understanding of the genetic basis of autosomal dominant ACV would allow a better classification of isolate cerebellar malformations and might permit to understand cell differentiation and migration in the developing central nervous system.
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PMID:Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1. 1594 Jun 96