A rare case of congenital amegakaryocytic thrombocytopenia associated with possible neonatal alloimmune thrombocytopenia and neutropenia by anti-HLA antibodies

Abstract

Introduction
We report the case of a neonate with thrombocytopenia and neutropenia at birth. Initially a diagnosis of alloimmune thrombocytopenia and alloimmune neutropenia was proposed. Due to the persistence of severe thrombocytopenia, further investigations were performed which led to the identification of an underlying congenital amegakaryocytic thrombocytopenia.
Fetal and neonatal alloimmune thrombocytopenia (FNAIT-NAIT) and neutropenia (FNAIN-NAIN) develop in pregnancy due to maternal alloimmunization and may be considered analogous to hemolytic disease of the fetus and newborn¹. The clinical presentation of NAIT can be extremely variable, ranging from asymptomatic cases in which the finding of thrombocytopenia is a random event, to patients who have petechiae or hematomas, or with mucous or cutaneous bleeding, up to subjects who develop severe internal hemorrhage². Symptoms of NAIN vary from none to mild skin infections, omphalitis or more severe infections such as pneumonia, sepsis, and meningitis³.  [ ... ]