摘要本文报道1例诊断为Wiskott-Aldrich综合征(Wiskott-Aldrich syndrome,WAS)的足月新生儿.该患儿以湿疹、持续性血小板减少、消化道出血(便血)为主要临床表现,血小板计数减少且不伴有平均血小板体积缩小,丙种球蛋白及输血小板治疗无效,行基因检测提示存在WA S基因c.121C>T杂合突变,其母亲为相应位点的杂合突变,为携带者.对于新生儿期不明原因的顽固性血小板计数减少的患儿,即使没有平均血小板体积减小及明显的免疫缺陷,应考虑Wiskott-Aldrich综合征的可能.

abstractsWe reported a case of full-term male neonate who was diagnosed with Wiskott-Aldrich syndrome(WAS) characterized by eczema, persistent thrombocytopenia and gastrointestinal bleeding (hematochezia). Serial blood tests showed decreased platelet count without platelet volume reduction. Treatment with human immunoglobulin and platelet transfusion turned out to be ineffective. A heterozygous mutation (c.121c>T) in WA S gene was detected. Moreover, his mother also had heterozygous mutation at the corresponding loci and was confirmed as a carrier. WAS should be considered in neonates presenting with unexplained thrombocytopenia even without mean platelet volume reduction and obvious immune deficiency.