Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America

Abstract

Introduction. Monogenic mutations as the cause of recurrent ischemic cerebral small-vessel disease with leukodystrophy are rare. COL4A1 gene mutations are a relatively new etiology of cerebrovascular lesions in young adults; however, any patient has been reported from Latin America. Case Presentation. We presented a Mexican young female with leukodystrophy and recurrent stroke secondary to COL4A1 monogenic mutation. Discussion/Conclusion. COL4A1 monogenic mutations are associated with cerebral small-vessel disease and other systemic manifestations. To date, there is little evidence to justify the treatment and prevention of recurrent strokes in patients with this mutation.