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肝豆状核变性(Wilson病)是一种常染色体隐性遗传以铜代谢障碍为主的疾病。两所医院先后收治6例,均被误诊为病毒性肝炎或肝硬化,误诊时间最短的约半日,长的达5年多。为吸取教训,提高对本病的认识,特报告于下。 临床资料 本组男、女性各3例,年龄8～17岁,平均11.2岁。6例中4例缓慢起病,2例起病较急。4例有发热,其中1例为持续高热,3例为间歇中、低热。6例均呈明显贫血面容,4例有显性黄疽。4例肝脏肿大(2～6cm),2例脾脏肿大,4例有中量～大量腹水。6例均无厌油、恶心、呕吐、出血等症状。2例表现有肌张力增强,深反射亢进,其中1例且有四肢阵发性抽搐、震颇/扑翼样震颤,精细动作不能。除1例有轻微精神症状外,余神智、精神均常。
Hepatolenticular degeneration (Wilson’s disease) is an autosomal recessive disorder characterized by disorders of copper metabolism. The two hospitals have received 6 cases, were misdiagnosed as viral hepatitis or cirrhosis, misdiagnosis of the shortest about half a day, up to 5 years. In order to learn the lesson and raise awareness of this disease, we report the following. Clinical data The group of men and women in 3 cases, aged 8 to 17 years, mean 11.2 years. Of the 6 cases, 4 were slow onset and 2 were more acute onset. 4 cases had fever, of which 1 case of sustained high fever, 3 cases intermittent, low fever. 6 cases showed significant anemia, 4 cases of dominant jaundice. 4 cases of liver enlargement (2 ~ 6cm), 2 cases of splenomegaly, 4 cases of moderate to large amount of ascites. 6 cases were no greasy oil, nausea, vomiting, bleeding and other symptoms. 2 cases showed enhanced muscle tone, deep hyperreflexia, including 1 case of limbs and paroxysmal convulsions, shock quite / flapping-wing tremor, fine motor can not. In addition to 1 case of mild mental symptoms, I sober, spirit are common.