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Case Reports in Medicine
Volume 2012 (2012), Article ID 828050, 3 pages
http://dx.doi.org/10.1155/2012/828050
Case Report

Mutation in the Prothrombin Gene G20210A as a Cause of Cerebral Venous Thrombosis

1Internal Medicine, Universidad CES, Medellín, Colombia
2Neuroinmunology, Clinical Neurology, Fundación Clínica Valle del Lili, Cali, Colombia

Received 8 February 2012; Accepted 21 February 2012

Academic Editor: Mamede de Carvalho

Copyright © 2012 Jorge A. Arroyave and Jairo Quiñones. 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.

Abstract

Introduction. Cerebral venous sinus thrombosis (CVST) is a rare form of cerebrovascular disease, which may manifest clinically by a wide variety of signs and symptoms. It has been associated with multiple risk factors including genetic or acquired blood disorders, infections, and trauma. Case Report. Man of 17 years who presented with 10 days of intense global headache with nausea and vomiting and subsequent onset of mild hemiparesis and hypoesthesia in right hemibody. Studies show venous thrombosis of the superior longitudinal sinus. It was identified a gene mutation in prothrombin G20210A as a probable cause of the thrombosis. Conclusions. Substitution of guanine for adenine at nucleotide 20210 in the coding region of the prothrombin gene is the second most common primary thrombophilia. Multiple cases of CVST have been associated with this mutation. In the presence of CVST must be considered the primary studies for thrombophilia gene mutations, including prothrombin G20210A.