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患儿,男,16岁,言语不利一年余,肢体静止性震颤、步态慌张一月,伴智力减退.查体:双下肢屈肌张力增高,右下肢巴氏征(+),对指及指鼻试验(+).化验:血、尿常规正常.肝胆B超未见异常.CT检查:双侧基底节区见对称性低密度影,以豆状核、尾状核部显著,双侧外囊见对称性弓形向外的新月形低密度影,同时见大脑皮质萎缩.CT拟诊:肝豆状核变性,建议行血、尿铜含量测定及眼科裂隙灯检查.结果回报:血清Cu:9.43umol/L,尿Cu:1.02umol/24h.裂隙灯:角膜与巩膜交界处见绿褐色色素环即K—F环,支持CT诊断.
Children, male, 16 years old, speech unfavorable more than a year, rest tremor, gait January, with mental retardation. Physical examination: double lower extremity flexor tension, right lower extremity Pakistan’s sign (+), And finger nasal test (+) .Experiment: normal blood and urine, abnormal liver and gallbladder B ultrasound.CT examination: bilateral basal ganglia seen symmetric low density, to the nucleus pulposus, caudate nucleus significant, double Side of the lateral symmetry of the bow seen in the crescent-shaped crescent-shaped low-density crescent, while see the cerebral cortex atrophy.CT diagnosis: hepatolenticular degeneration, the proposed line of blood, urine copper content and ophthalmic slit lamp examination.Results: Serum Cu: 9.43umol / L, urine Cu: 1.02umol / 24h. Slit lamp: Cornea and sclera junction see green brown pigment ring that K-F ring, support CT diagnosis.