延迟诊断的肝豆状核变性疾病(附二例病例报告)

The Delayed Diagnosis of Wilson Disease

目的为加强对肝豆状核变性疾病的认识并提高其诊断正确性。方法对遗传特点、起病首发症状及临床表现、头颅MRI特点进行分析和探讨。结果所报告的2例患者均无家族遗传病史。第一例首发症状为手颤及精神症状,因精神症状比较突出最初被诊断为“精神性疾病”,经抗精神治疗达1年之久方被确诊;第二例首发症状为进行性智能障碍及神经系统症状,因头颅MRI特殊表现开始曾被诊断为“胶质瘤”、“脑囊虫病”、“多发性硬化”近1年,后通过创伤性脑活检才被确诊为肝豆状核变性疾病。结论该病之所以被延迟诊断主要因首发症状及临床表现的多样性、头颅MRI改变多样化、无家族遗传病史以及医生缺乏对此病的认识等多种因素所致。

Objective To introduce the lesson and experience of diagnosis and misdiagnosis in Wilson disease (WD). Methods To analyze and investigate the characteristics of heredity, initial symptoms of onset, clinical manifestations, features of brain MRI. Results There was no family history in this two patients with WD. The initial symptoms of onset in the first case were tremor of right hand, and mental symptoms. He was misdiagnosed as “psychosis” due to his prominent mental manifestations. After one year antipsychotic treatment, he was diagnosed as WD. The initial symptoms of onset in the second case were progressive mental disturbances and neurological symptoms. She was misdiagnosed as “glioma”, “cerebral cysticercosis”, and “multiple sclerosis” due to the special brain MRI manifestations around for one year. She was diagnosed as WD according to the traumatic brain biopsy.Conclusions A variety of factors, inducing the misdiagnosis of WD, included multiple initial symptoms of onset, clinical manifestations, the characters of brain MRI, no family history, and the lack of doctor knowledge about WD.