Presentation
General deterioration in balance and overall performance last 24 months. Severe intellectual disability.
Patient Data
Multiple ill-defined areas of mild cortical thickening and increased T2 signal throughout both cerebral hemispheres, in keeping with cortical tubers. On T2 FLAIR, several radial bands of increased signal project from the frontal lobe tubers to the lateral ventricles.
15 mm cluster of small well-defined cysts in the subcortical white matter of the right superior frontal lobe. The cysts are isointense to CSF on T2 and T1 and do not suppress on FLAIR. The overlying cortex is thickened.
Multiple subependymal nodules lining the lateral ventricles. The nodules bloom on SWI, in keeping with calcification.
Case Discussion
This case demonstrates typical features of tuberous sclerosis, namely cortical tubers and calcified subependymal nodules. The "bubbly" right frontal subcortical white matter lesion may represent a low grade multicystic neoplasm such as multinodular and vacuolating neuronal tumor.