Cerebrotendinous xanthomatosis: heard of it?

Sankalp, * and Nair, Rajesh P and Nayal, Bhavna (2015) Cerebrotendinous xanthomatosis: heard of it? Medico Research Chronicles, 2 (2). pp. 170-172. ISSN 2394-3971

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Abstract

Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive, lipid storage disorder, characterized by accumulation of cholesterol and cholestanol, predominantly in the brain, spinal cord, peripheral nerves, tendons, lungs, liver and kidneys. The usual conundrum is an amalgam of the primary symptom, as mentioned above, along with features of cerebellar ataxia, juvenile cataract and subcutaneous swellings over tendons. Mental retardation is a very striking and prominent feature in this syndrome. Prompt diagnosis is vital, as patients benefit from therapy with chenodeoxycholic acid and progress of the disease can be halted prior to irreversible neurological dysfunction. This is our experience.

Item Type: Article
Uncontrolled Keywords: mental retardation; soft tissue swellings; autosomal recessive disorder.
Subjects: Medicine > KMC Manipal > Neuro Surgery
Medicine > KMC Manipal > Pathology
Medicine > KMC Manipal > Surgery
Depositing User: KMC Manipal
Date Deposited: 17 Apr 2015 04:13
Last Modified: 17 Apr 2015 04:13
URI: http://eprints.manipal.edu/id/eprint/142453

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