儿童肝豆状核变性的神经系统外表现

Manifestations of heptolenticular degeneration in non neurolo gical system

目的 总结儿童肝豆状核变性（ＨＬＤ）的神经系统外表现及其特点。方法 对５５ 例确诊为ＨＬＤ患儿的临床资料进行分析。结果 ５５ 例首发症状为肝病２４ 例，神经系统症状１６例，溶血性贫血５ 例，肉眼血尿３ 例，骨关节痛６ 例，范可尼综合征１ 例，其中以神经系统外表现为首发症状占７０．９％ 。确诊肝脏损害４４ 例，肾脏损害１７ 例，骨关节痛１５ 例，溶血病史６ 例，神经系统表现３８ 例。在有神经系统表现的３８ 例中全部有肝脏损害，且大多数有其他脏器的损害。结论 儿童ＨＬＤ以神经系统外表现为首发症状者常见，在出现典型神经系统症状时，已有其他脏器的损害，尤其是肝损害。

To summarize the manifestations and characteristics of heptolenticular degeneration(HLD)in non neurological system in children. Methods Analysis the clinical data of 55 children with HLD. Results In 55 children with HLD,the first symptom was abnormal liver function in 24 cases,neurological symptoms in 16 cases,hemolytic anemia in 5 cases,visible hematuria in 3 cases,osteoarthralgia in 6 cases,Fornconi syndrome in 1 case.Non neurological manifestations was the first symptom in 70.9% cases.In children who have been diagnosed HLD had liver damage in 44 cases,renal leision in 17 cases,osteoarthralgia.in 15 cases,having history of hemolysis in 6 cases,neurological sympotoms in 38 cases.In patients with neurological manifestations,all of them had liver damage,and most of them had other organ damage. Conclusion Non neurological manifestations as the first symptom is common in children with HLD.When the typical neurological symptoms emerged,other organic damage had already presented,especially in the liver.