论文部分内容阅读
肝豆状核变性是一种铜代谢障碍的遗传性疾病。本病属常染色体隐性遗传。笔者近年曾诊治一例,现报告如下。 男患者,38岁。江苏昆山。八个月前出现上肢不自主抖动较慢而有规律。在从事农活时加重,睡眠时消失。近两月来面部表情呆板,口半张呈傻笑状,言语不清而缓慢,流涎。行动逐日困难,不能穿衣和系带。下肢僵直屈曲不灵。三个月前曾因肝脏肿大,肝功能异常,在当地医院拟诊“肝炎”,但查乙肝抗体阴性。体检:
Hepatolenticular degeneration is a genetic disorder of copper metabolism. The disease is autosomal recessive. In recent years, I have a case of diagnosis and treatment, are as follows. Male patient, 38 years old. Kunshan, Jiangsu. Eight months ago, upper limb involuntary jitter was slow and regular. When engaged in farming aggravating, disappear when sleeping. Nearly two months facial expression dull, mouth half silly smile, unclear and slow words, salivation. Action day by day difficult, can not dress and lace. Lower extremity stiff buckling ineffective. Three months ago due to liver enlargement, abnormal liver function, in the local hospital to be diagnosed “hepatitis”, but checked negative for hepatitis B antibodies. Physical examination: