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Case Report
4 (
Supp 1
); S87-S90
doi:
10.4103/0976-3147.116420

Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient

Department of Neurology, PGIMER and Dr. RML Hospital, New Delhi, India
Address for correspondence: Dr. Bhupender Kumar Bajaj Department of Neurology, PGIMER and Dr. RML Hospital New Delhi, India India docbajaj@yahoo.co.in
Licence
This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Disclaimer:
This article was originally published by Thieme Medical and Scientific Publishers Private Ltd. and was migrated to Scientific Scholar after the change of Publisher; therefore Scientific Scholar has no control over the quality or content of this article.

Abstract

ABSTRACT

Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disorder of bile acid metabolism manifesting typically with the triad of neurological dysfunction, tendon xanthoma, and early onset cataract. The diagnosis is often missed and delayed as the patients do not manifest all the classical features. Early recognition and initiation of chenodeoxycholic acid therapy with Hydoxymethylglutaryl Coenzyme‑A (HMG‑Co‑A) inhibitors is critical to prevent irreversible neurological damage and permanently disabled existence. We report about two patients, both of whom remained undiagnosed for more than 20 years. Genetic analysis in one of the patients revealed a novel genetic mutation in one of the homologous genes. The patient was found to have heterozygous mutation of CTX gene with a novel mutation in exon 1 of CYP27A1 gene.

Keywords

Ataxia
cataract
cerebrotendinous xanthomatosis
cerebellar hyperintensities
genetic mutation
quadriparesis

Conflict of Interest

None declared

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