386 Epilepsy in pediatric patients – evaluation of anatomic structures’ volume of the brain

Abstract

DNA detection on Guthrie-card resulted positive and a novel gene mutation in PLP1 was found at whole-exome-sequencing.In both cases neurological impairment differential diagnosis between cCMV and genetic syndrome appeared particularly challenging. bMRI suggested for both a cCMV causative role: in case-1 radiologic imaging revision revealed a possible fetal clastic damage, in case-2 grey matter degeneration with normal white matter appeared inconsistent with PLP1 mutation. Moreover, a detailed perinatal history revealed early signs of cCMV, which were ignored: in case-1 intrauterine-growthrestriction, in case-2 pathological audiological screening.In conclusion, congenital cytomegalovirus infection should always be considered in cases of infant with unexplained neurological impairment, particularly when signs suggestive of congenital infection are present at birth. In fact, an early screening of possible neurological sequelae allows precocious treatment whose efficacy is documented only if started within the first month of life.