Menkes’ Syndrome with Cerebellar Hypoplasia
نویسندگان
چکیده
منابع مشابه
Moebius' syndrome with unilateral cerebellar hypoplasia.
A case is reported of a child with Moebius' syndrome who also has unilateral cerebellar hypoplasia. We suggest that this combination of abnormalities could result from a vascular disruption occurring in the basilar artery early in its development.
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Six dogs with cerebellar dysplasia, in which the cerebellar vermis was hypoplastic, are described. Clinical signs in these dogs were noted around 2 weeks of age and included ataxia, dysmetria, and intention tremors. A variable portion of the caudal cerebellar vermis was absent in each dog; portions of the cerebellar hemispheres and flocculus also were absent in some of them. Neurons in certain ...
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Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others. We report on a boy that at the age of 2 months presented with encephalopath...
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An 8 month old boy is presented with clinical and laboratory features of Menkes' kinky hair syndrome. A brief discussion ensues.
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The incidence of myelodysplastic syndrome (MDS) with erythroid hypoplasia/aplasia is probably underestimated because in most patients it is mistaken for acquired pure red blood cell aplasia. This report describes three children who fulfilled the criteria for MDS with erythroid hypoplasia/aplasia. All these patients had transfusion dependent anaemia, reticulocytopenia, erythroid hypoplasia/aplas...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1997
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-11-2-11