Subependymal grey matter heterotopia with diffuse cerebral parenchymal damage
Presentation
Microcephaly, delayed milestones.
Patient Data
Microcephaly with early closure and overlapping of all cranial sutures -more markedly the coronal sutures.
Widespread encephalomalacia, ventriculomegaly. Subependymal grey matter heterotopia bilaterally. Focal increased density within the basal ganglia suspicious for calcification.
Brain stem and cerebellum are unremarkable.
The orbital contents are normal.
Case Discussion
Complex destructive process of the brain. The differential includes infective, genetic and metabolic causes. Early intra-uterine infection can result in microcephaly and grey-matter migration disorders. Multiple genetic abnormalities may result in combined pictures with microcephaly and bilateral grey matter heterotopia.
Further clinical, genetic and imaging work up would be required to narrow the differential.