Korean Journal of Perinatology  2012;23(2):108-112

May-Hegglin Anomaly Diagnosed by Genetic Study in a Newborn Infant.

Na Hee LEE 1 ; Eun Sun KIM ; Se In SUNG ; So Yoon AHN ; Myung Sook LEE ; Young Mi HAN ; Hee Jin KIM ; Won Soon PARK ; Yun Sil CHANG

Affiliations

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Keywords

May-Hegglin anomaly; Thrombocytopenia; MYH9

Country

Republic of Korea

Language

Korean

Abstract

May-Hegglin anomaly is an autosomal dominant platelet disorder characterized by giant platelets, thrombocytopenia, and Dohle-like cytoplasmic inclusion bodies in granulocyte. Usually, diagnosis was delayed because they do not have life-threatening bleeding. We experienced a case of May-Hegglin anomaly, which was diagnosed with genetic study at neonate. A 3 days old female has bilateral cephalhematoma at birth after a Caesarean section delivery. Thrombocytopenia with inclusion bodies in granulocyte was observed at peripheral blood cell morphology. Her mother had thrombocytopenia at pregnancy and was diagnosed May-Hegglin anomaly through MYH9 mutation gene study. Accordingly, infant had genetic study and found same gene mutation with mother. Based on the family history, we can diagnose May-Hegglin anomaly in a newborn infant who has cephalhematoma and thrombocytopenia by genetic study.