May–Hegglin anomaly: A rare hereditary autoimmune thrombocytopenia

Abstract

Neonatal thrombocytopenia is a common entity encountered in neonatal intensive care unit. Diagnosis often becomes challenging because of broad range of possible clinical diagnoses. Careful evaluation and history taking are the backbone of sound diagnosis. During such diagnostic dilemma, investigation as basic as peripheral smear examination can come to a rescue. Here, we present a rare case of neonatal autoimmune thrombocytopenia. On the basis of detailed history, careful examination, and basic investigations, diagnosis of May–Hegglin anomaly was made which was later confirmed by genetic studies (rare mutation in myosin heavy chain 9 gene).