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Case Reports in Neurological Medicine
Volume 2013, Article ID 735419, 3 pages
Case Report

Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report

1The Department of Physical Medicine and Rehabilitation, Konya Education and Research Hospital, 42040 Konya, Turkey
2The Department of Neurology, Konya Education and Research Hospital, 42040 Konya, Turkey

Received 15 January 2013; Accepted 4 February 2013

Academic Editors: Y. Iwasaki, R. Koide, and K. Wessel

Copyright © 2013 Halim Yilmaz et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.