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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。
Objective To summarize the extranodal appearance and characteristics of children with hepatolenticular degeneration (HLD). Methods The clinical data of 55 children diagnosed as HLD were analyzed. Results The first symptom of 55 cases was liver disease in 24 cases, neurological symptoms in 16 cases, hemolytic anemia in 5 cases, gross hematuria in 3 cases, bone and joint pain in 6 cases, Fanconi syndrome in 1 case, of which the performance of the nervous system as the first symptom Accounting for 70.9%. 44 cases of liver damage, 17 cases of kidney damage, 15 cases of bone and joint pain, 6 cases of hemolytic disease and 38 cases of nervous system were diagnosed. All of the 38 cases with neurological manifestations had liver damage, and most had other organ damage. Conclusions Childhood HLD is the most common symptom of extranodal neurological manifestations. In the presence of typical neurological symptoms, other organs have been damaged, especially liver damage.