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肝豆状核变性病(HLD)合并不同类型的骨改变较多见,但仅以骨病为主要表现的HLD临床罕见,现将我院收治的1例报道如下。病例介绍男性,17岁,学生。1981年冬始出现双踝美节肿痛,无红肿和发热。继而双下肢痛、跛行,呈进行性加重。至入院前一年,双上肢、躯干骨亦出现类似疼痛。四肢、躯干骨渐畸形变,活动明显受限。外院诊断为“风湿,类风温性关节炎、佝偻病”。经治无效,于1989年3月入我院检查。既往无肾脏病及肝炎史。其姐患有HLD,正在治疗中。检查:身高125cm,体重35kg。表情自如,语言流利,
Hepatolenticular degeneration (HLD) combined with different types of bone changes are more common, but only bone disease as the main manifestation of HLD clinically rare, now our hospital one case reported as follows. Case Presentation Male, 17 years old, student. The beginning of 1981 winter double ankle arthrosis, no swelling and fever. Then double lower extremity pain, limp, was progressive increase. A year prior to admission, double-upper extremities and torso bones also showed similar pain. Limbs, trunk bone deformity change, activity was significantly limited. Outside the hospital diagnosed as “rheumatism, rheumatoid arthritis, rickets.” The rule invalid, in March 1989 into our hospital examination. No previous history of kidney disease and hepatitis. Her sister has HLD and is under treatment. Check: height 125cm, weight 35kg. Free expression, fluent language,