Hereditary thrombotic thrombocytopenic purpura in a neonate
10.3760/cma.j.cn113903-20250210-00058
- VernacularTitle:新生儿遗传性血栓性血小板减少性紫癜1例
- Author:
Jia FU
1
;
Shuyu SI
;
Di JIN
;
Zequn ZHANG
;
Heng LI
Author Information
1. 吉林大学第一医院儿童医院新生儿科，长春 130021
- Publication Type:Journal Article
- Keywords:
Hemolytic anemia;
Thrombocytopenia;
Gene mutation
- From:
Chinese Journal of Perinatal Medicine
2025;28(7):598-600
- CountryChina
- Language:Chinese
-
Abstract:
This report described a case of hereditary thrombotic thrombocytopenic purpura (TTP) with neonatal onset. The infant presented with facial petechiae, jaundice, progressive thrombocytopenia, and persistent bleeding at puncture sites shortly after birth. Plasma ADAMTS13 activity was<1%. Whole-exome sequencing identified heterozygous variants in ADAMTS13: c.3121C>T and c.1869delT, inherited from the father and mother, respectively. The infant improved following exchange transfusion and phototherapy. Post-discharge, prophylactic fresh frozen plasma infusion was administered every 3-4 weeks. At the 2-year follow-up, no abnormalities were observed. This case highlights the importance of early recognition and intervention in neonates with unexplained thrombocytopenia, severe non-hemolytic jaundice, and anemia to ensure survival and improve prognosis.
