| Autor: |
Israel Wong-Valenzuela, Emilio, San Juan, Daniel, Santos Zambrano, José, Camacho Molina, Alejandra, Angel Morales-Morales, Miguel, Lopez-Landa, Alejandro |
| Zdroj: |
Case Reports in Genetics; 2023, Vol. 2023 Issue: 1 |
| Abstrakt: |
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. |
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