Mutación del gen CTNNB1 asociada a alteración del neurodesarrollo, microcefalia y persistencia del vítreo primario hiperplásico bilateral: reporte de un caso y revisión de la literatura

Abstract

The most cases of persistence hyperplastic primary vítreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vítreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.