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肝豆状核变性又称Wilson病,是由于常染色体隐性遗传的一种铜代谢障碍所引起的家族性疾病,多起病于儿童或青年人。临床上表现为进行性加剧的肢体粗大震颤,肌张力增强,构音困难,精神障碍,肝硬化及角膜色素环等症状。因本病早期诊断困难,不论门诊或病房均易误诊,我们遇4例误诊病例,现进行报道,并略加讨论。
Hepatolenticular degeneration, also known as Wilson’s disease, is a familial disease caused by an autosomal recessive inheritance of copper metabolism disorder that frequently occurs in children or young adults. Clinical manifestations of progressive aggravating limb tremor, increased muscle tone, dysarthria, mental disorders, cirrhosis and corneal pigment ring and other symptoms. Due to the early diagnosis of this disease is difficult, whether clinics or wards are easily misdiagnosed, we encounter 4 cases of misdiagnosis, are now reported, and a little discussion.