Hereditary Antithrombin Deficiency with Hemorrhagic Cerebral Infarction and Cardiac Thrombosis Occurred in Neonatal Period: A Case Report / 임상소아혈액종양
Clinical Pediatric Hematology-Oncology
;
: 151-154, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-71729
ABSTRACT
Antithrombin (AT) is the main inhibitor of blood coagulation proteases. Hereditary AT deficiency is an autosomal-dominant thrombophilic disorder caused by a SERPINC1 abnormality, it represents a risk factor for thromboembolic disease. A 25-day-old male infant was referred to Severance Children's Hospital for hemorrhagic cerebral infarction with hydrocephalus. The initial laboratory study showed 11% AT activity. An approximate 4 mm-x-3 mm-size thrombosis was also found in the right ventricle by echocardiography. We found two deletion in the coding and flanking sequences of SERPINC1 c.235C>T (p.Arg79Cys) and c.442T>C (p.Ser148Pro) at 10 months of age. The p.Ser148Pro mutation was found in his mother but the other was not. This case is a rare thrombotic event that occured early year in due to AT deficiency. Our patient had side effects after heparin treatment, so aspirin therapy was employed. No thrombotic events occurred until 1 year of age.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Peptídeo Hidrolases
/
Trombose
/
Coagulação Sanguínea
/
Ecocardiografia
/
Heparina
/
Infarto Cerebral
/
Aspirina
/
Fatores de Risco
/
Deficiência de Antitrombina III
/
Codificação Clínica
Tipo de estudo:
Estudo de etiologia
/
Fatores de risco
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Clinical Pediatric Hematology-Oncology
Ano de publicação:
2015
Tipo de documento:
Artigo
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