肝豆状核变性(HLD),是一种慢性内源性铜中毒引起、以肝脏及神经系统病变为主的常染色体隐性遗传性进行性疾病。儿科並不罕见。由于临床表现很不典型,起病隐袭,容易误诊或漏诊。为提高疗效,必须尽可能争取早诊早治。 Hepatolenticular degeneration (HLD) is an autosomal recessive inherited progressive disease caused by chronic endogenous copper poisoning, predominantly liver and nervous system disorders. Pediatrics are not uncommon. As the clinical manifestations are very typical insidious onset, easy to misdiagnosis or missed diagnosis. In order to improve the curative effect, we must try our best to get early diagnosis and early treatment.