Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.

ABSTRACT:

Background

Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive inherited metabolic disorder. It results from a deficiency of sterol 27-hydroxylase (CYP27A1), which is a mitochondrial cytochrome P450 enzyme that catalyzes the hydroxylation of cholesterol and modulates cholesterol homeostasis. Patients with CYP27A1 deficiency show symptoms related to excessive accumulation of cholesterol and cholestanol in lipophilic tissues such as the brain, eyes, tendons, and vessels, resulting in juvenile cataracts, tendon xanthoma, chronic diarrhea, cognitive impairment, ataxia, spastic paraplegia, and peripheral neuropathy. CTX is underdiagnosed as knowledge of the disorder is mainly based on case reports.

Case summary

A Chinese family with CTX consisting of one patie

SUBMITTER: Cao LX 

PROVIDER: S-EPMC7674721 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature