Presentation
Motor developmental delay and seizures.
Patient Data
Thickened, bumpy dysplastic gyri with shallow sulci in both cerebral hemispheres predominantly involving bilateral frontoparietal and temporal lobes consistent with polymicrogyria.
Gross ventriculomegaly with stretching of corpus callosum. Hypoplasia/ dysplasia of posterior body and splenium of corpus callosum.
The septum pellucidum is absent.
Hypoplastic, flattened pons with a prominent fourth ventricle and kinked pontomesencephalic contour.
Enlarged, thickened malformed tectal plate.
Diffuse edema and T2/FLAIR hyperintensity involving cerebral white matter bilaterally consistent with abnormal myelination.
Multiple subcortical cysts in both cerebellar hemispheres.
Mild protrusion of scleral-uveal coat of bilateral orbits consistent with posterior staphyloma.
Case Discussion
The patient previously had ultrasound and CT of the brain which suggested hydrocephalus secondary to aqueductal obstruction. However, the constellation of MRI findings suggested the possibility of muscle-eye-brain disease, which was eventually confirmed with genetic work-up.
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