Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

World J Clin Cases. 2022 Oct 16;10(29):10681-10688. doi: 10.12998/wjcc.v10.i29.10681.

PMID: 36312475

Yue-Yue Chang, Chuan-Qing Yu, Lei Zhu

Highlights: This study reports the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.

Abstract

Background: The CYP27A1 gene, which codes for sterol 27-hydroxylase, is mutated in cerebrotendinous xanthomatosis, an autosomal recessive disorder of lipid metabolism. This enzyme is crucial for converting cholesterol to chenodeoxycholic and cholic acids. Cerebrotendinous xanthomatosis is a rare neurological disease with a wide range of clinical symptoms that make it simple to misdiagnose.

Case summary: This article describes a 33-year-old female patient with cerebrotendinous xanthomatosis and her clinical, biochemical, and molecular characteristics. The patient developed ataxia and had the typical symptoms of juvenile cataracts, tendon xanthomata, and progressive nervous system dysfunction. White matter abnormalities and bilateral dentate nucleus lesions were found during brain MRI. For two years, this patient's condition was misdiagnosed, which led to serious neurological issues. She continued to appear with ataxia and dysarthria after receiving treatment with chenodeoxycholic acid for two years. The CYP27A1 pathogenic sites, c.255+1G>T and c.1263+1G>T, were both brought about by shear denaturation.

Conclusion: To prevent progressive neurological degeneration, a multidisciplinary diagnosis of cerebrotendinous xanthomatosis must be made quickly. Although c.255+1G>T is a rare mutation site, c.1263+1G>T is a well-known mutation.

Keywords: CTX, Ataxia, CYP27A1 gene, Case report, Cerebrotendinous xanthomatosis, Juvenile cataracts, Lipid metabolism, Tendon xanthoma