肝豆状核变性以骨肌变化并发佝偻病为特征者罕见,现报道1例。病历摘要患者男,9岁。1985年3月4日入院。1984年初发病,始感双下肢痛、无力,与气候变化无关。服用激素、抗风湿类药物、维生素D_3,钙剂治疗无效,且进行性加重。入院时步态蹒跚。患者1岁学走路、说话,平时动作笨拙,学习成绩好。无肝病史,无鼻衄、齿龈出血。无震颤、抽搐。家族中无同病患者。查:鸡胸,郝氏沟(十),“x”型腿,心、肺 Hepatolenticular degeneration is characterized by skeletal muscle changes associated with rickets are rare, is reported in 1 case. Patient summary Male, 9 years old. March 4, 1985 admission. Early onset in 1984, initially feeling both lower extremity pain, weakness, and climate change has nothing to do. Taking hormones, anti-rheumatic drugs, vitamin D_3, calcium treatment ineffective, and progressive increase. Admission stuttering gait. 1 year old patient learning to walk, speak, usually clumsy movements, good academic performance. No history of liver disease, no epistaxis, bleeding gums. No tremor, convulsions. Family no different patients. Check: chicken breast, Hao ditch (X), “x” type legs, heart and lungs