Affiliations: Child Neuropsychiatric Unit, University of Parma,
Note:  Correspondence: Francesco Pisani M.D., Developmental
Neuropsychiatric Unit, University of Parma Via Gramsci 14, 43100 Parma, Italy.
Tel.: +39 0521 702750; Fax: +39 0521 290458; E-mail: [email protected]
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.