目的 :分析儿童肝豆状核变性的临床特征 ,以加深临床医生对本病的认识 ,提高诊断水平 ,减少误诊。方法 :对近 10年来在我院住院确诊的 2 2例小儿肝豆状核变性病例 ,就其临床特征、误诊及治疗情况 ,进行回顾分析。结果 :本组发病年龄 4 5～ 14岁 ,平均 7 3岁。临床表现复杂 ,其首发症状常为 :肝脏受损6 4% (14/ 2 2 ) ,神经系统损害占 18% (4 / 2 2 ) ,溶血性贫血占 9% (2 / 2 2 ) ,肾脏损害 9% (2 / 2 2 ) ;本病极易误诊 ,本组误诊率为 82 % (18/ 2 2 ) ,分别误诊为肝炎 (8/ 18)、肝硬化及肝昏迷 (4 / 18)、急性肾炎 (2 / 18)、癫痫 (2 / 18)、脑脉管炎及溶血性贫血 (1/ 18)等 ;确诊要求角膜K -F环阳性 ,血清铜蓝蛋白降低 ;以锌盐和小剂量青霉胺联合治疗 ,疗效较好。结论 :本病表现复杂多样 ,极易误诊 ,加深对本病的认识 ,对提高诊断水平、减少误诊 ,争取早期治疗具有较大的意义 Objective: To analyze the clinical features of hepatolenticular degeneration in children so as to deepen the clinicians’ understanding of the disease, improve the diagnosis and reduce the misdiagnosis. Methods: Twenty-two children with hepatolenticular degeneration diagnosed in our hospital in recent 10 years were retrospectively analyzed on their clinical features, misdiagnosis and treatment. Results: The age of onset of this group 4 5 ~ 14 years, mean 7 3 years old. The clinical manifestations are complicated. The first symptom is often as follows: liver damage is 6.4% (14/2 2), nervous system damage is 18% (4/2), hemolytic anemia is 9% (2/2 2), kidney (8/18), cirrhosis and hepatic coma (4/18) were misdiagnosed as hepatitis (8/18) , Acute nephritis (2/18), epilepsy (2/18), cerebral vasculitis and hemolytic anemia (1/18), etc .; confirmed corneal K-F ring positive serum ceruloplasmin decreased; zinc salt and Small doses of penicillamine combination therapy, better effect. Conclusion: The performance of the disease is complex and diverse, easily misdiagnosed and deepen the understanding of the disease, to improve the diagnostic level, reduce misdiagnosis and strive for early treatment has great significance