Abstract
OBJECTIVES: This report describes the case of an infant with congenital thrombotic thrombocytopenic purpura. CASE PRESENTATION: An infant who presented after birth with severe neonatal indirect hyperbilirubinemia, thrombocytopenia and hemolytic anemia. His initial neonatal course was complicated with hypoxemic respiratory failure due to persistent pulmonary hypertension of the newborn, acute kidney injury and disseminated intravascular coagulopathy. After surviving the acute neonatal presentation, he presented with stress-induced recurrent hemolytic anemia and thrombocytopenia. The diagnosis of congenital TTP was suspected and confirmed by low ADAMTS13 activity, the absence of ADAMTS13 inhibitors, and the identification of a homozygous variant in the ADAMTS13 gene. CONCLUSIONS: Although rare, congenital TTP needs to be considered by neonatologists when dealing with a neonate with hemolytic jaundice, anemia, and thrombocytopenia. PPHN can complicate the initial presentation of congenital TTP.