Clin Pediatr Hematol Oncol.  2015 Oct;22(2):151-154. 10.15264/cpho.2015.22.2.151.

Hereditary Antithrombin Deficiency with Hemorrhagic Cerebral Infarction and Cardiac Thrombosis Occurred in Neonatal Period: A Case Report

• Park JS
• Choi YJ
• Hahn SM
• Kim HS
• Han JW
• Oh SH
• Lyu CJ

• KMID: 2084616
• DOI: http://doi.org/10.15264/cpho.2015.22.2.151

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.

Keyword

Antithrombin deficiency; SERPINC1; Neonatal cardiac thrombosis

MeSH Terms

Antithrombin III Deficiency*
Aspirin
Blood Coagulation
Cerebral Infarction*
Clinical Coding
Echocardiography
Heart Ventricles
Heparin
Humans
Hydrocephalus
Infant
Male
Mothers
Peptide Hydrolases
Risk Factors
Thrombosis*
Aspirin
Heparin
Peptide Hydrolases