Presentation
Seizures
Patient Data
Thickened, bumpy dysplastic gyri in both cerebral hemispheres predominantly in frontoparietal and temporal lobes.
Gross ventriculomegaly is seen with stretching of corpus callosum.
Septum pellucidum appears deficient.
Hypoplastic, flattened pons is seen with prominence of 4 th ventricle and kinked pontomesencephalic contour.
Enlarged, thickened malformed tectal plate is seen.
Abnormal T2/FLAIR hyperintensities are seen in bilateral frontoparietal white matter.
Irregular cerebellar folia is seen bilaterally with multiple small cerebellar cysts.
Case Discussion
Overall above findings suggest likelihood of dystroglycanopathy/congenital muscular dystrophy with possibilities being muscle eye brain disease and Fukuyama congenital muscular dystrophy.