PDF(Pubmed)
Abstract：
BACKGROUND: 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.
UNASSIGNED: 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.
UNASSIGNED: We diagnosed her with CTX and treated with chenodeoxycholic acid and clonazepam.
CONCLUSIONS: The patient\'s condition considerably improved. This case could help avoid misdiagnosis and mistreatment in clinical practice.
UNASSIGNED: 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.
UNASSIGNED: We diagnosed her with CTX and treated with chenodeoxycholic acid and clonazepam.
CONCLUSIONS: The patient\'s condition considerably improved. This case could help avoid misdiagnosis and mistreatment in clinical practice.
摘要：
背景：脑性黄瘤病（CTX）是一种常染色体隐性的脂质代谢紊乱。它是由固醇-27-羟化酶基因的缺陷引起的，导致胆固醇和胆汁醇的大量沉积，引起各种临床表现；然而，以震颤为主要表现的CTX尚未见报道。
■这里，我们报告了一个27岁的女人,在12岁时出现头部和身体震颤的人。许多医院误诊为特发性震颤和帕金森病，疗效差。
■我们诊断她患有CTX，并接受鹅去氧胆酸和氯硝西泮治疗。
结论：患者的病情有了很大改善。该病例有助于避免临床上的误诊和误治。
■这里，我们报告了一个27岁的女人,在12岁时出现头部和身体震颤的人。许多医院误诊为特发性震颤和帕金森病，疗效差。
■我们诊断她患有CTX，并接受鹅去氧胆酸和氯硝西泮治疗。
结论：患者的病情有了很大改善。该病例有助于避免临床上的误诊和误治。
