以震颤为主要表现的脑腱黄瘤病：一例报告。
Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report.
机构信息
Neurology Department, Ji AO Brain Hospital of Siping, Si Ping, Jilin Province, China.
Neurological Intensive Care Unit Department, The First Affiliated Hospital of Dalian Medical University, Da Lian, Liaoning Province, China.
出版信息
Medicine (Baltimore). 2024 Apr 26;103(17):e37976. doi: 10.1097/MD.0000000000037976.
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.
简介
脑腱黄瘤病（CTX）是一种常染色体隐性脂质代谢紊乱疾病。它是由固醇 27-羟化酶基因缺陷引起的，导致大量胆甾醇和胆烷醇的沉积，引起多种临床表现；然而，CTX 以震颤为主要表现的情况尚未见报道。
患者关注和临床发现
在此，我们报告了一位 27 岁的女性，她在 12 岁时出现头部和身体震颤。许多医院误诊为特发性震颤和帕金森病，治疗效果不佳。
主要诊断和干预
我们诊断她患有 CTX，并使用鹅去氧胆酸和氯硝西泮进行治疗。
结论
患者病情显著改善。该病例有助于避免临床实践中的误诊和误治。
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