Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.

Mukherjee, A A; Chawla, B P; Rathi, S S; Puthran, R S

Mukherjee, A A; Chawla, B P; Rathi, S S; Puthran, R S.

Article in English | IMSEAR | ID: sea-91972

ABSTRACT

ABSTRACT

Cerebrotendinous xanthomatosis is an exceptionally rare condition in Indian subcontinent, however, it is potentially treatable if diagnosed. We present and discuss the clinical presentation and investigations in a case of cerebrotendinous xanthomatosis (CTX).

Subject(s)

Adult; Ataxia/etiology; Chenodeoxycholic Acid; Cholestanol; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use; Male; Xanthomatosis, Cerebrotendinous/complications

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Ataxia / Humans / Male / Chenodeoxycholic Acid / Cholestanol / Xanthomatosis, Cerebrotendinous / Hydroxymethylglutaryl-CoA Reductase Inhibitors / Adult Language: English Year: 2007 Type: Article

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