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.
患儿，女，生后2 d，因皮肤巩膜黄染半天入院。主要临床表现为持续严重的黄疸和血小板减少，最终确诊为先天性血小板减少性紫癜（TTP）。先后予光疗、输注新鲜冰冻血浆、红细胞、血小板及换血等治疗后，患儿病情好转。基因检测结果提示患儿ADAMTS13基因存在c.3650T > C (p.I1217T)纯合突变，其父母该位点均为杂合突变。先天性TTP是一种罕见的常染色体隐性遗传疾病，及时输注新鲜冰冻血浆可获得良好疗效。该病例为国内外首例报道该位点纯合突变所致的先天性TTP患儿。