Diffuse multicystic encephalomalacia in a preterm baby due to homozygous methylenetetrahydrofolate reductase 677 C-->T mutation.
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.
Department of Pediatrics, Neonatology Unit, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey.
Canan
C
Aygun
Bilge
B
Tanyeri
Meltem
M
Ceyhan
Hasan
H
Bagci
Sukru
S
Kucukoduk
D001921:Brain / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D004453:Echoencephalography; D004678:Encephalomalacia / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency / Q000235:genetics*; D002527:Myoclonic Cerebellar Dyssynergia / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D042965:Methylenetetrahydrofolate Reductase (NADPH2)