Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.
نویسندگان
چکیده
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).
منابع مشابه
Cerebrotendinous xanthomatosis: a treatable ataxia.
A 44-year-old man presented with progressive cerebellar ataxia and spastic paraparesis (see the video on the Neurology Web site). Gait difficulties had started at age 16 years, and at age 42 years bilateral cataracts were diagnosed. His cognitive function progressively declined, and seizures repeatedly occurred. Although diarrhea and tendon xanthomas were not overt, clinical and laboratory inve...
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عنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 55 شماره
صفحات -
تاریخ انتشار 2007