May-Hegglin Anomaly Diagnosed by Genetic Study in a Newborn Infant.
- Author:
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
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. yschang@skku.edu
- Publication Type:Case Report
- Keywords:
May-Hegglin anomaly;
Thrombocytopenia;
MYH9
- MeSH:
Blood Cells;
Blood Platelets;
Cesarean Section;
Female;
Granulocytes;
Hemorrhage;
Humans;
Inclusion Bodies;
Infant;
Infant, Newborn;
Mothers;
Parturition;
Pregnancy;
Thrombocytopenia
- From:Korean Journal of Perinatology
2012;23(2):108-112
- CountryRepublic 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.
