A 2-day-old neonate with hyperbilirubinemia and thrombocytopenia.
- Author:
Chen LI
1
;
Zheng CHEN
;
Ming-Yan CHEN
;
Xiao-Lu MA
Author Information
1. Department of Neonatal Intensive Care Unit, Children's Hospital, Zhejiang University School of Medicine/National Clinical Research Center for Chird Health, Hangzhou 310051, China. 6198007@zju.edu.cn.
- Publication Type:Case Reports
- MeSH:
ADAMTS13 Protein;
Anemia;
China;
Female;
Humans;
Hyperbilirubinemia;
Infant, Newborn;
Purpura, Thrombotic Thrombocytopenic
- From:
Chinese Journal of Contemporary Pediatrics
2019;21(12):1218-1222
- CountryChina
- Language:Chinese
-
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.
