May Hegglin Anomaly with R1339X Masquerading as Idiopathic Thrombocytopenic Purpura And Dengue Fever (A Presentation of Family)

Abstract

May-Hegglin anomaly (MHA) is a rare disorder characterised by large platelets, thrombocytopenia and Dohle-like body neutrophil inclusions. The present report pertains to a Chinese family on the island of Borneo, Malaysia with MHA. Two of the family members presented to the hospital with thrombocytopenia and treated as idiopathic thrombocytopenic purpura (ITP) and dengue fever respectively. A diagnosis of MHA was suspected after careful family history taking and review of the peripheral blood film which showed large platelets and Dohle-like body neutrophil inclusions. A genetic mutation screening on this family of 10 was performed and showed that 6 of the family members have MYH9 mutation on exon 41. MHA may be misdiagnosed as ITP or dengue fever especially in the tropics and incur unnecessary treatment. As such, detailed history taking and careful examination of peripheral blood film may help to prevent such misdiagnoses.