Cerebrotendinous Xanthomatosis, A Rare Metabolic Disease

Authors

  • Mahmudur Rahman Siddiqui Medicine
  • Md Sahriar Mahbub FCPS Medicine P-II Course, DMCH.
  • Quazi Tarikul Islam Professor of Medicine, Department of Medicine, DMCH.

Keywords:

Cerebrotendinous xanthomatosis, tendon xanthoma, seizure, lipid storage disease

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disease. CTX is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs and seizures). A 32-year-old male patient presented to us with the features of this rare genetic metabolic disorder.

DOI: http://dx.doi.org/10.3329/jom.v13i1.8690

JOM 2012; 13(1): 92-93

Abstract
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Author Biography

Mahmudur Rahman Siddiqui, Medicine

Postgraduate resident, Dept. of Medicine. DMCH.Dhaka.

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Published

2012-03-12

How to Cite

Cerebrotendinous Xanthomatosis, A Rare Metabolic Disease. (2012). Journal of Medicine, 13(1), 92-93. https://doi.org/10.3329/jom.v13i1.8690

Issue

Vol. 13 No. 1 (2012)

Section

Case Reports

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How to Cite

Cerebrotendinous Xanthomatosis, A Rare Metabolic Disease. (2012). Journal of Medicine, 13(1), 92-93. https://doi.org/10.3329/jom.v13i1.8690