title: Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report.
abstract: In neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. In the paper, a 31-year-old young stroke female patient with the coexistence of neurofibromatosis and MTHFR C677T gene mutation was presented.
authors.affiliation: The Department of Physical Medicine and Rehabilitation, Konya Education and Research Hospital, 42040 Konya, Turkey.
authors.forename: Halim
authors.initials: H
authors.lastname: Yilmaz
authors.forename: Gulten
authors.initials: G
authors.lastname: Erkin
authors.forename: Haluk
authors.initials: H
authors.lastname: Gumus
authors.forename: Lutfiye
authors.initials: L
authors.lastname: Nalbant