신생아기 유전자 검사를 통해 진단된 May-Hegglin anomaly 1례 = May-Hegglin Anomaly Diagnosed by Genetic Study in a Newborn Infant

다국어 초록 (Multilingual 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 diag nosed 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.