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Case Report
  |   Neonatal Med_23_3_168_172.pdf
Neonatal Med August;23(3):168-172.
Published online 2016 August 31
Copyright ⓒ 2016 Neonatal Medicine Neonatal Medicine
A Rare Case of Cerebral Sinovenous Thrombosis Associ­ated with MTHFR A1298C and C677T Mutations
Seh Hyun Kim, M.D., Na Mi Lee, M.D., and Soo Ahn Chae, M.D.
Department of Pediatrics, Chung-Ang University College of Medicine, Seoul, Korea
Corresponding Author: Na Mi Lee , Tel: +82­-2­-6299-­3181 , Fax: +82­-2-­6264-­2167 , Email: piena81@hotmail.com
Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neurological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated with vascular diseases. Here, we report the case of a newborn with MTHFR mutation­associated CSVT. Analysis of MTHFR in the patient detected heterozygous C677T (677CT) and A1298C (1298AC) mutations. Analysis of MTHFR in the patient's mother did not detect a C677T (677CC) mutation but detected a homozygous A1298C (1298CC) mutation. Our results suggest that the presence of heterozygous MTHFR C677T and A1298C mutations affect thrombophilic activity in the neonate, resulting in the development of refractory seizure and CSVT. Moreover, presence of the homozygous MTHFR A1298C mutation in the patient's mother, who did not show any symptoms associated with thrombophilic activity, and conditions during gestation may have affected the patient's condition.
Keywords: Methylenetetrahydrofolate reductase, Cerebral infarction, Newborn, Stroke, Thrombosis
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