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Journal of Child Neurology
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Diffuse Multicystic Encephalomalacia in a Preterm Baby Due to Homozygous Methylenetetrahydrofolate Reductase 677 C->T Mutation

Canan Aygun, MD

Department of Pediatrics, Neonatology Unit, Ondokuz Mayls University Faculty of Medicine

Bilge Tanyeri, MD

Department of Pediatrics, Neonatology Unit, Ondokuz Mayls University Faculty of Medicine, btanyer{at}yahoo.com

Meltem Ceyhan, MD

Department of Radiology, Ondokuz Mayls University Faculty of Medicine

Hasan Bagc{iota}, PhD

Department of Medical Biology Ondokuz May{iota}s University Faculty of Medicine, Samsun, Turkey

Sukru Kucukoduk, MD

Department of Pediatrics, Neonatology Unit, Ondokuz Mayls University Faculty of Medicine

Methylenetetrahydrofolate reductase catalyzes the formation of 5-methyltetrahydrofolate from 5,10-methylentetrahydrofolate and produces folate for the methylation of homocysteine to methionine. Due to insufficient conversion of homocysteine to methionine, plasma homocysteine levels increase in methylenetetrahydrofolate reductase deficiency. Homocysteine is an amino acid that contains a neurotoxic sulfur molecule and can induce neuronal apoptosis. Methylenetetrahydrofolate reductase deficiency is 1 of the etiological factors that causes neurological symptoms and signs in the newborn and childhood period. Here, we report a premature baby with prenatal onset diffuse multicystic encephalomalacia and cerebellar atrophy due to homozygous methylenetetrahydrofolate reductase mutation.

Key Words: multicystic encephalomalacia • methylenetetrahydrofolate reductase mutation

Journal of Child Neurology, Vol. 23, No. 6, 695-698 (2008)
DOI: 10.1177/0883073807312371
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