Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report

Abstract

Introduction: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid metabolism disorder. It is caused by a defect in the sterol-27-hydroxylase gene, leading to the deposition of cholesteryl and bile alcohol in large amounts, causing a variety of clinical manifestations; however, tremor as the main manifestation of CTX has not been reported. Patient’s concerns and clinical findings: Herein, we report a 27-year-old woman, who developed head and body tremors at the age of 12 years. Many hospitals misdiagnosed her condition as idiopathic tremor and Parkinson disease, with a poor curative effect. Primary diagnosis and intervention: We diagnosed her with CTX and treated with chenodeoxycholic acid and clonazepam. Conclusion: The patient’s condition considerably improved. This case could help avoid misdiagnosis and mistreatment in clinical practice.