58例肝豆状核变性所致神经精神障碍的临床特点与误诊分析

The analysis of clinical features and misdiagnosis in 58 patients with hepatolenticular degeneration

目的总结肝豆状核变性(HLD)所致神经精神障碍的临床特点及误诊情况,以提高对本病的认识。方法回顾分析58例HLD病历资料的神经精神障碍的临床特征和误诊原因。结果共误诊41例,误诊率达70.69%。从发病到确诊时间3w～8y,平均时间12.5m。多误诊为帕金森病、舞蹈病、精神分裂症、先天痴呆及甲状腺功能亢进症等。结论 HLD患者早期临床表现差异较大,临床症状、体征复杂多样,易造成漏诊和误诊。临床医生应思路开阔、提高对本病的认识,注重病史采集及体格检查,才能减少误诊。

Objective To summarize the clinical characteristics and misdiagnosis of nerve disorder caused by hepatolenticular degeneration（HLD）in order to improve the understanding of the disease.Methods 58 cases of HLD were retrospectively analyzed,including the clinical features and misdiagnosis reasons of nerve disorder.Results 41 cases were misdiagnosed,the rate was 70.69%.The diagnose course was 3 weeks to 8 years,with average time of 12.5 months.It was usually misdiagnosed as Parkinson＇s disease,chorea,schizophrenia,congenital dementia and hyperthyroidism.Conclusion The difference of early clinical minifestation in HLD patients is bigger,clinical symptoms and signs are complicated.This disease is easy to be misdiagnosed.Clinical doctors should be open-minded,improve understanding,pay attention to history collection and physical examination in order to reduce the misdiagnosis.