Hemiparesia como signo de comienzo de la enfermedad de la sustancia blanca evanescente. Identificación de una nueva mutación

Hemiparesis must be included among clinical features of vanishing white matter disease. Early diagnosis can help to avoid infections and traumas and allows families to be genetically counselled. Our case contributes with the identification of a new mutation in EIF2B5 gene (p.Gly132Ala in position 395), not previously described. Its characteristics suggest a high probability of being pathogenic. We believe that it should be considered among the complex EIF2B mutations responsible for the disease.