Cerebrotendinous Xanthomatosis: Case Report on a Rare Genetic Disease

Authors

  • Goutam Chowdhury Consultant of Radiology & Imaging, Chevron Clinical Lab (PTE) Ltd, Chittagong, Bangladesh
  • Pradip Kumar Kayasthagir Assistant Professor of Neurology, Chittagong Medical College, Chittagong, Bangladesh
  • Abhijit Chowdhury PhD Research Fellow, Centre for Clinical Epidemiology and Biostatistics, Hunter Medical Research Institute, The University of Newcastle, Australia

DOI:

https://doi.org/10.3329/jcmcta.v28i1.62393

Keywords:

Cerebrotendinous Xanthomatosis; CYP27A1; Cholestanol; Chenodeoxycholic Acid

Abstract

Cerebrotendinous Xanthomatosis (CTX) is a rare inborn progressive lipid storage disorder of autosomal recessive inheritance pattern.The multisystem disease causes decreased bile acid synthesis alongside cholesterol and cholestanol deposition in various tissue sites. This case report focuses on describing a middle-aged Bangladeshi male patient presented chiefly with neurological symptoms of CTX who received treatment with Chenodeoxycholic Acid (CDCA.

JCMCTA 2017 ; 28 (1) : 72 - 75

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Published

2017-08-20

How to Cite

Chowdhury, G., Kayasthagir, P. K. ., & Chowdhury, A. . (2017). Cerebrotendinous Xanthomatosis: Case Report on a Rare Genetic Disease. Journal of Chittagong Medical College Teachers’ Association, 28(1), 72–75. https://doi.org/10.3329/jcmcta.v28i1.62393

Issue

Vol. 28 No. 1 (2017)

Section

Case Reports