肝豆状核变性骨－肌型11例报告

Osseomuscular type of hepatolenticular degeneration:Report of 11 cases.

肝豆状核变性（ＨＬＤ），是一种以锥体外系征为主的脑损害或／及肝脏损害为特征的常染色体隐性遗传性疾病。但ＨＬＤ骨－肌型却是以骨骼－肌肉症状为主要特征的一种特殊类型，易被临床误诊。住我院确诊的４９８例ＨＬＤ患者中，骨－肌型仅１１例。其特征为：（１）多于青少年期发病；（２）较长期以缓慢进行性骨骼变化及进行性肌萎缩为主要临床表现，病程进展缓慢；（３）锥体外系征及肝症状缺如或轻微；（４）预后较良好。提示中国人ＨＬＤ骨－肌型与国外报告的印度籍骨－肌型的临床特征略有不同。

AbstractHepatolenticular degeneration(HLD)is a recessive hereditary disease and is characterized by involvement of extrapyramidal system of the brain and liver damage. The osseomuscular form of HLD is a special type which involves skeleton and muscles,so it is easily misdiagnesed.In 484 in-patients of HLD in our hospital,we found only 11 cases of osseomuscular type. Its features are as follows: 1.most of the patients are adolescent;2.sllowly progressive skeletal alteration and muscu-lar wasting;3.mild extrapyramidal signs and liver damage,or even lacking;4.favourable progno-sis. The osseomuscular type of HLD in Chinese somewhat differs from that in India.