Hereditary Antithrombin Deficiency with Hemorrhagic Cerebral Infarction and Cardiac Thrombosis Occurred in Neonatal Period: A Case Report
10.15264/cpho.2015.22.2.151
- Author:
Joon Sik PARK
1
;
Yun Jung CHOI
;
Seung Min HAHN
;
Hyo Sun KIM
;
Jung Woo HAN
;
Seung Hwan OH
;
Chuhl Joo LYU
Author Information
1. Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. CJ@yuhs.ac
- Publication Type:Case Report
- Keywords:
Antithrombin deficiency;
SERPINC1;
Neonatal cardiac thrombosis
- MeSH:
Antithrombin III Deficiency;
Aspirin;
Blood Coagulation;
Cerebral Infarction;
Clinical Coding;
Echocardiography;
Heart Ventricles;
Heparin;
Humans;
Hydrocephalus;
Infant;
Male;
Mothers;
Peptide Hydrolases;
Risk Factors;
Thrombosis
- From:Clinical Pediatric Hematology-Oncology
2015;22(2):151-154
- CountryRepublic of Korea
- Language:English
-
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.
