Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is the first report to describe the coexistence of two rare diseases, intracranial paramedian hourglass-shaped dermoid and steatocystoma multiplex. A 46-year-old female with a history of steatocystoma multiplex, bradydactylies and kyphosis showed oscillopsia, ataxia and hemifacial spasm. MRI findings suggested a giant dermoid cyst extending from the left middle temporal fossa to the cerebellopontine angle, and this was confirmed surgically. We propose the involvement of some genetic factor or pathological process common to both disorders, steatocystoma multiplex and dermoid. From the clinical point of view, patients with cystic skin lesion should also be checked for intracranial lesion.
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PMID:Intracranial paramedian hourglass-shaped dermoid associated with hereditary steatocystoma multiplex. 152 46

A 55-year-old man with cerebellar ataxia and steatocystoma multiplex was found to have reduced serum concentrations of total cholesterol, betalipoprotein and apolipoprotein B. Computed tomography revealed atrophy of the cerebellum and brain stem. Of the six family members examined, four had hypobetalipoproteinaemia, and one had mild ataxia. Similar skin lesions were noted in five male relatives. This case represents a rare combination of familial hypobetalipoproteinaemia, cerebellar ataxia and steatocystoma multiplex.
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PMID:Familial hypobetalipoproteinaemia complicated by cerebellar ataxia and steatocystoma multiplex. 199 45