Congenital thrombotic thrombocytopenic purpura: a rare cause of severe neonatal jaundice and hypoxic respiratory failure – a case report

TL;DR

This case report describes a rare condition, congenital thrombotic thrombocytopenic purpura, in a newborn presenting with severe jaundice and respiratory failure.

Contribution

The case highlights congenital TTP as a rare but important cause of neonatal hemolytic jaundice and thrombocytopenia.

Findings

The infant had severe neonatal jaundice, anemia, and thrombocytopenia due to congenital TTP.

Low ADAMTS13 activity and a homozygous gene variant confirmed the diagnosis.

Persistent pulmonary hypertension complicated the initial presentation of the condition.

Abstract

This report describes the case of an infant with congenital thrombotic thrombocytopenic purpura.

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.

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.

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