摘要
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.
出处
《临床神经病学杂志》
CAS
1994年第3期142-144,共3页
Journal of Clinical Neurology