May-Hegglin Anomaly Diagnosed by Genetic Study in a Newborn Infant / 대한주산의학회잡지
Korean Journal of Perinatology
; : 108-112, 2012.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-226169
Biblioteca responsável:
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.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Trombocitopenia
/
Células Sanguíneas
/
Plaquetas
/
Corpos de Inclusão
/
Cesárea
/
Parto
/
Granulócitos
/
Hemorragia
/
Mães
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Lactente
/
Recém-Nascido
/
Gravidez
Idioma:
Coreano
Revista:
Korean Journal of Perinatology
Ano de publicação:
2012
Tipo de documento:
Artigo