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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A quite unique patient aged 13, characterized by a combination of organoid nevus on the left scalp and subtotal cerebellar agenesis accompanied by hypoplasia of the pons and midbrain, was reported. Cardinal clinical features consisted of nonprogressive cerebellar manifestations including intention tremor and ataxia, speech and visual disturbance and mental retardation. An electronystagmogram demonstrated periodic alternating nystagmus. A clinical diagnosis of cerebellar agenesis in this case was made through the demonstration of characteristic features in metrizamide CT and midline sagittal tomography of metrizamide cisternography of the posterior fossa. An extensive review of the literature revealed three papers dealing with organoid nevus associated with various neurological abnormalities, but no single case with a similar combination of cutaneous organoid nevus and cerebellar agenesis had been reported.
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PMID:An association of subtotal cerebellar agenesis with organoid nevus--a possible new variety of neurocutaneous syndrome. 666 Apr 24

Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation. Many other diseases have some of these features, so that diagnosis of Cockayne syndrome can be difficult, especially in younger children. Eccrine sweat glands were microdissected from autopsy or biopsy specimens from patients with Cockayne syndrome, and mean values for duct length, secretory coil volume, ratio of coil volume to duct length, and axis ratio of the secretory coil were determined. In comparison with values for eccrine glands of patients with no known genetic or chromosomal disease, eccrine glands in Cockayne syndrome are abnormally small for age. Whether other diseases with various similarities to Cockayne syndrome produce similar growth abnormality of eccrine sweat glands is not known, but determination of sweat gland size may provide data suggesting or supporting the diagnosis of Cockayne syndrome.
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PMID:Eccrine sweat gland anatomy in cockayne syndrome: a possible diagnostic aid. 668 86

Two siblings with classic transferase deficiency galactosemia that was detected at birth have been treated with lactose restriction since the neonatal period. Both patients developed a unique and progressive neurologic syndrome of mental retardation, tremor, and ataxia. Careful review of the family history and medical records, the absence of metabolic disturbances other than those related to galactosemia, and the aggregate physical findings and neurodiagnostic studies ruled out other neurologic disorders in these siblings. It is therefore proposed that these patients represent a subgroup of transferase-deficient galactosemic patients, who develop characteristic neurologic sequelae with conventional dietary management. The existence of this subgroup should be considered in evaluations of therapeutic responses in cohorts of patients with galactosemia. Further, galactosemia should be included in the differential diagnosis of tremor and ataxia in the setting of mental retardation.
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PMID:Curious neurologic sequelae in galactosemia. 670 Oct 54

This study presents the results of neurological assessments of a representative sample of seven-year-old Swedish children with perceptual, motor and attentional deficits and their controls (N = 141). Among those children diagnosed as suffering from minimal brain dysfunction (MBD), the majority showed neurodevelopmental deviations indicative of the "clumsy child syndrome'. However, 20 per cent had slight signs of choreoathetosis, diparesis, hemiparesis or ataxia. Other associated neurodevelopmental deviations are considered. The correlation between neurological findings and background factors is discussed: the MBD group had higher scores for various "organic' background factors than the comparison children, and the children with neurological syndromes had somewhat higher scores than the remaining children with MBD. The difficulties in distinguishing MBD from mental retardation, cerebral palsy and childhood psychoses is clearly illustrated. Long-term follow-up will indicate the prognostic significance of these findings.
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PMID:Perceptual, motor and attentional deficits in seven-year-old children: neurological and neurodevelopmental aspects. 687 93

A probably new syndrome of craniosynostosis, ataxia, trigeminal anaesthesia, and parietal alopecia area associated with pons-vermis fusion anomaly (atresia of the fourth ventricle), in two unrelated Mexican girls, is described. The cerebellar anomaly was proven by CT scan only and it correlated with ataxia. Other abnormalities seen in both patients were midfacial hypoplasia, bilateral corneal opacities, low-set ears, mental retardation and short stature. This disorder could be a new neurocutaneous syndrome.
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PMID:Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases. 713 29

Argininosuccinic aciduria (ASA-uria) is a rare inborn error of the urea cycle, in which there is massive excretion of argininosuccinic acid (ASA) in the urine together with elevated concentrations of ASA in the plasma and the CSF. The characteristic symptoms are either those of overwhelming metabolic disease in the newborn period, or variable psychomotor retardation. The present patient, the first Finnish one to be reported, was a 49-year-old woman. She was hospitalized at the age of 26 with a diagnosis schizophrenia and mental retardation. Her clinical symptoms consisted of ataxia, disturbance of coordination, clumsiness, intention treMor and a positive Romberg's sign. The laboratory findings were consistent with the mild, late-onset type of ASA-uria.
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PMID:Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. 713 86

A two-year old male affected by Joubert Syndrome (cerebellar vermix agenesis, mental retardation, respiratory rythm disturbs, ataxia and abnormal eye movements) is reported. A review of literature of fourteen previous cases is done. Early diagnosis of this syndrome is very important for later prognosic and genetic advice. Authors point out the usefulness of CT scan for diagnosis.
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PMID:[Joubert syndrome. Study of a new case and review of the literature]. 715 80

Two teenaged children born of normal parents in a consanguineous family had evidence of abnormal neurological, endocrine, and ectodermal development. They had mental retardation, hearing loss, ocular dysmetria, hyperreflexia, and ataxia consistent with olivopontocerebellar degeneration. They had hypogonadotrophic hypogonadism and extremely short stature despite normal serum growth hormone and somatomedin-C. There was also hypodontia with peg shaped teeth and mid-face hypoplasia. This syndrome of hypoplasia of mid-lind structures appeared to be inherited as an autosomal recessive trait.
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PMID:Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism. 732 12

An opportunity to study the effects of methylmercury poisoning in humans was provided by the large outbreak in Iraq in 1971-2. In adults, poisoning resulted from the ingestion of home-made bread prepared from methylmercury-treated seed grain and there was a highly significant correlation between the amount of bread ingested and blood mercury levels. Poisoning in infants resulted either from prior exposure in utero or from suckling or both. Blood mercury levels were higher in infants and children than in adults. There was no increased incidence of congenital defects. Symptoms and signs of poisoning and histopathological changes were mainly confined to the CNS. Symptoms developed, on average, 1-2 months after exposure. In children there was mental retardation with delayed onset of speech and impaired motor, sensory and autonomic function. Severely affected children were blind and deaf. In adults, the clinical picture could be classified as 1, mild (mainly of sensory symptoms) 2, moderate (sensory symptoms accompanied by cerebellar signs) and 3, severe (gross ataxia with marked visual and hearing loss which, in some cases, progressed to akinetic mutism followed by coma). Grades 1 and 2 carried a better prognosis thant grade 3. Interference with transmission at the myoneural junction was found in 14% of patients studied. There was no evidence of peripheral nerve involvement per se and sensory symptoms may be of central origin. The clinical differences between the Iraqi and Japanese outbreaks may be a result, in part at least, of the severe, prolonged and continuous exposure which occurred in the latter outbreak. Improvement was observed among the mild and moderate group. Treatment with chelating agents, thiol resin, haemodialysis and exchange transfusion lowered blood mercury concentrations but produced no convincing clinical benefit. To be effective, treatment may need to be instituted soon after exposure.
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PMID:Clinical and epidemiological aspects of methylmercury poisoning. 738 45

The authors report a new case of Joubert syndrome (agenesis of the cerebellar vermis, mental retardation, disturbance of respiratory rhythm, ataxia, abnormal eye-movements) and review the relevant literature on the other nine cases reported. The diagnosis in the present case was confirmed by computerized tomography. Early recognition of this syndrome is important in view of the prognosis and for genetic counseling.
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PMID:Joubert syndrome: a case confirmed by computerized tomography. 739 33


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