May-Hegglin Anomaly Diagnosed by Genetic Study in a Newborn Infant / 대한주산의학회잡지
Korean Journal of Perinatology
; : 108-112, 2012.
Article
de Ko
| WPRIM
| ID: wpr-226169
Bibliothèque responsable:
WPRO
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Thrombopénie
/
Cellules sanguines
/
Plaquettes
/
Corps d'inclusion
/
Césarienne
/
Parturition
/
Granulocytes
/
Hémorragie
/
Mères
Type d'étude:
Diagnostic_studies
Limites du sujet:
Female
/
Humans
/
Infant
/
Newborn
/
Pregnancy
langue:
Ko
Texte intégral:
Korean Journal of Perinatology
Année:
2012
Type:
Article