Teaching neuroimages: prenatal MRI of muscle-eye-brain disease.

A 29-week fetus was noted to have dilation of the entire ventricular system on prenatal ultrasound. Fetal MRI at 33 weeks revealed brain malformations suggestive of congenital muscular dystrophy (figure, A and B).1,2 Following normal delivery at 40 weeks, examination was remarkable for retinal detachment (figure, D) and optic nerve hypoplasia, without dysmorphic features. Sequence analysis showed a homozygous mutation in the POMGnT1 gene consistent with muscle-eye-brain disease. Muscle-eye-brain disease is rare and presents with hypotonia, weakness, ocular abnormalities, and severe brain malformation (type II lissencephaly).1,2 Fetal MRI can be valuable in further characterizing malformations detected by ultrasound and improving prenatal counseling and management.