A Preventable Ataxia: Cerebrotendinous Xanthomatosis.

Abstract:

:Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development of cognitive decline and adult onset ataxia in a 35-year-old man. He had poor scholastic performance in childhood followed by gradually progressive cognitive decline. He presented to us with severe cerebellar ataxia and oculomotor apraxia. The key features that led to the diagnosis of CTX were the history of cataracts in childhood and Achilles tendon xanthoma. His brain magnetic resonance imaging showed characteristic features of CTX, and the diagnosis was confirmed by demonstrating the mutation in exon 2 of the CYP27A1 gene. The recognition of CTX earlier could have prevented his significant disabilities. The definitive treatment is oral chenodeoxycholic acid, which will prevent the accumulation of the cholestanol, which is thought to be responsible for the neurotoxicity.

journal_name

Ann Indian Acad Neurol

authors

Shaji B,Srikumar B,Ramachandran D

doi

10.4103/aian.AIAN_126_18

subject

Has Abstract

pub_date

2019-10-01 00:00:00

pages

493-496

issue

4

eissn

0972-2327

issn

1998-3549

pii

AIAN-22-493

journal_volume

22

pub_type

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