Maternal and neonatal MTHFR-C677T mutation: A case report

Abstract

Homozygosis for the thermolabile variant (C677T) of the methylene-tetrahydropholate reductase (MTHFR) gene has been related to a high incidence of neural tube defects, pre-eclampsia, retardation in fetal growth and hyperhomocysteinemia. The latter represents a known risk factor for thrombosis. We report the case of a newborn with severe cerebral damage and neonatal epilepsy that needed treatment with antiepileptic drugs. The mother was to be found homozygote for the C677T variant of the MTHFR gene and the child was to be found heterozygote for the same mutation. We underline the possible correlation between the fetal-perinatal adverse events and the mother’s genetic metabolic risks.

Keywords

C677T MTHFR gene mutation - risk factors - cerebral damage - homocysteine - metabolic disorders - thrombophilia