A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene

Ji Ye Ahn; Min Seon Choi; Jae Hee Lee; Sang Kee Park

doi:10.14734/kjp.2015.26.4.348

Journal List > Korean J Perinatol > v.26(4) > 1013773

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Ahn, Choi, Lee, and Park: A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene

Case Report

Korean J Perinatol 2015;26(4):348-351.

Published online: 20 December 2015

DOI: https://doi.org/10.14734/kjp.2015.26.4.348

A Case of Neonatal Cerebral Infarction associated with Mutation in homozygous MTHFR C677T Gene

Ji Ye Ahn, M.D., Min Seon Choi, M.D., Jae Hee Lee, M.D., Sang Kee Park, M.D.

Department of Pediatrics, School of Medicine, Chosun University, Gwangju, Korea

Correspondence to: Sang Kee Park, M.D. Department of Pediatrics, School of Medicine, Chosun University, 365, Pilmun-daero, Dong-gu, Gwangju 61453, Korea Tel: +82-62-220-3043, Fax: +82-62-227-2904 E-mail: skpark@chosun.ac.kr This report presented as a poster in 65th Meeting of the Korean Pediatrics Society, 2015.

Received 16 September 2015 Revised 14 October 2015 Accepted 15 October 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

C677T mutation in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) predisposes to hyperhomocysteinemia in vivo and is known to be one of the causes of perinatal ischemic stroke. As MTHFR plays a role in the metabolism of homocysteine, C677T mutation may account for reduced enzymatic activity resulting in hyperhomocysteinemia. This may be prevented by introducing activity-enhancing coenzymes such as folic acid, vitamin B₆, and B₁₂. Though C677T mutation is known as a significant risk factor for cerebral infarction, reported cases of cerebral infarction among affected neonates are scarce. This report describes a case of a neonate homozygous for C677T mutation who had a perinatal ischemic stroke, born in a mother whose folic acid and nutritional consumption had been reduced during pregnancy.

Keywords: MTHFR gene, Cerebral infarction, Homocysteine

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Fig. 1.

Brain MRI findings of patient. Diffusion-weighted image (A) and T2-weighted image (B) showed hyperintensity in the territory of right middle cerebral artery (asterisk).

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