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

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.

PATIENTS 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.