Subependymal grey matter heterotopia with diffuse cerebral parenchymal damage

Case contributed by Dr Hidayatullah Hamidi

Presentation

Microcephaly, delayed milestones.

Patient Data

Age: 5 months
Gender: Female

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.

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Case information

rID: 83803
Published: 21st Jun 2021
Last edited: 22nd Jun 2021
Inclusion in quiz mode: Included

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