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.
Article
em En
| WPRIM
| ID: wpr-788553
Biblioteca responsável:
WPRO
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.
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Texto completo:
1
Índice:
WPRIM
Assunto principal:
Peptídeo Hidrolases
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Trombose
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Coagulação Sanguínea
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Ecocardiografia
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Heparina
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Infarto Cerebral
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Aspirina
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Fatores de Risco
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Deficiência de Antitrombina III
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Codificação Clínica
Tipo de estudo:
Etiology_studies
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Risk_factors_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Clinical Pediatric Hematology-Oncology
Ano de publicação:
2015
Tipo de documento:
Article