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KMID : 0361720120230020108
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Korean Journal of perinatology
2012 Volume.23 No. 2 p.108 ~ p.112
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May-Hegglin Anomaly Diagnosed by Genetic Study in a Newborn Infant
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Lee Na-Hee
Kim Eun-Sun
Sung Se-In
Ahn So-Yoon
Lee Myung-Sook
Han Young-Mi
Kim Hee-Jin
Park Won-Soon
Chang Yun-Sil
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Abstract
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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.
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KEYWORD
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May-Hegglin anomaly, Thrombocytopenia, MYH9
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