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

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 fac...

Descripción completa

Detalles Bibliográficos
Autores principales: Yilmaz, Halim, Erkin, Gulten, Gumus, Haluk, Nalbant, Lutfiye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600223/
https://www.ncbi.nlm.nih.gov/pubmed/23533858
http://dx.doi.org/10.1155/2013/735419
_version_ 1782475608843878400
author Yilmaz, Halim
Erkin, Gulten
Gumus, Haluk
Nalbant, Lutfiye
author_facet Yilmaz, Halim
Erkin, Gulten
Gumus, Haluk
Nalbant, Lutfiye
author_sort Yilmaz, Halim
collection PubMed
description 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.
format Online
Article
Text
id pubmed-3600223
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher Hindawi Publishing Corporation
record_format MEDLINE/PubMed
spelling pubmed-36002232013-03-26 Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report Yilmaz, Halim Erkin, Gulten Gumus, Haluk Nalbant, Lutfiye Case Rep Neurol Med Case Report 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. Hindawi Publishing Corporation 2013 2013-02-27 /pmc/articles/PMC3600223/ /pubmed/23533858 http://dx.doi.org/10.1155/2013/735419 Text en Copyright © 2013 Halim Yilmaz et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Case Report
Yilmaz, Halim
Erkin, Gulten
Gumus, Haluk
Nalbant, Lutfiye
Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report
title Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report
title_full Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report
title_fullStr Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report
title_full_unstemmed Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report
title_short Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report
title_sort coexistence of neurofibromatosis type-1 and mthfr c677t gene mutation in a young stroke patient: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600223/
https://www.ncbi.nlm.nih.gov/pubmed/23533858
http://dx.doi.org/10.1155/2013/735419
work_keys_str_mv AT yilmazhalim coexistenceofneurofibromatosistype1andmthfrc677tgenemutationinayoungstrokepatientacasereport
AT erkingulten coexistenceofneurofibromatosistype1andmthfrc677tgenemutationinayoungstrokepatientacasereport
AT gumushaluk coexistenceofneurofibromatosistype1andmthfrc677tgenemutationinayoungstrokepatientacasereport
AT nalbantlutfiye coexistenceofneurofibromatosistype1andmthfrc677tgenemutationinayoungstrokepatientacasereport

Ejemplares similares