A 2-day-old neonate with hyperbilirubinemia and thrombocytopenia / 中国当代儿科杂志

ABSTRACT

A girl was admitted to the hospital on day 2 after birth due to jaundice of the skin and sclera for half a day. The main clinical manifestations were persistent severe jaundice and thrombocytopenia, and she was finally diagnosed with congenital thrombotic thrombocytopenic purpura (TTP). Her conditions were improved after phototherapy, exchange transfusion, and infusion of fresh frozen plasma, red blood cells, and platelets. Gene detection showed a homozygous mutation of c.3650T>C(p.I1217T) in the ADAMTS13 gene, while her parents had a heterozygous mutation at this locus. Congenital TTP is a rare autosomal recessive disease, and timely infusion of fresh frozen plasma can achieve a good clinical outcome. This is the first case of congenital TTP caused by homozygous mutation at this locus reported in China and overseas.