Diagnóstico ecográfico prenatal de lisencefalia asociada a síndrome de Miller-Dieker

Abstract

Lissencephaly is a cerebral malformation characterized by the absence (agyria) or reduced number (pachygyria) of convolutions, caused by a failure of neuron migration in the neocortex. We present the case of a fetus with a suspected diagnosis of lissencephaly based on prenatal ultrasound, which was confirmed by postnatal magnetic resonance imaging. The newborn showed characteristic facial dysmorphism, and cytogenetic analysis with FISH studies showed a deletion of a region at chromosome locus 17p 13.3, leading to a definitive diagnosis of Miller-Dieker syndrome.