肝豆状核变性(HLD)是一种常染色体隐性遗传性代谢性疾病,非典型病例或疾病早期易误诊,现报道二例,并就此问题予以讨论。例1.男性,23岁,四肢关节游走性疼痛2年余,言语不清、咽下困难2月,于1985年3月7日入院。曾查血沉正常,抗“O”最高达800单位(正常333单位以下),经青、链霉素治疗后降至正常。关节疼痛以右侧肢体明显、活动受限。近两月来双髋、膝、踝关节疼痛,言语不利,咽下困难,右手 Hepatolenticular degeneration (HLD) is an autosomal recessive metabolic disease that is misdiagnosed as an atypical disease or an early stage of disease. Two cases are reported and discussed. Example 1. Male, 23 years old, limbs and joints pain walking more than 2 years, speechless, swallowing difficulties in February, on March 7, 1985 admission. Have checked normal erythrocyte sedimentation rate, anti-“O” up to 800 units (normal 333 units below), after treatment of cyanotic, streptomycin to normal. Joint pain to the right limb obvious, limited activity. Over the past two months, double hip, knee, ankle pain, speech unfavorable, dysphagia, right hand