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KMID : 0387820150220020151
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Clinical Pediatric Hematology-Oncology
2015 Volume.22 No. 2 p.151 ~ p.154
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Hereditary Antithrombin Deficiency with Hemorrhagic Cerebral Infarction and Cardiac Thrombosis Occurred in Neonatal Period: A Case Report
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Park Joon-Sik
Choi Youn-Joung
Hahn Seung-Min
Kim Hyo-Sun
Han Jung-Woo
Oh Seung-Hwan
Lyu Chuhl-Joo
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Abstract
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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-×-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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KEYWORD
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Antithrombin deficiency, SERPINC1, Neonatal cardiac thrombosis
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