Brain pathology characteristic of tuberous sclerosis?

• A. Lewy bodies.
• B. Cortical tubers and subependymal nodules/SEGAs.
• C. Prion plaques.
• D. Demyelinating plaques.

Answer: (B)

Tuberous sclerosis is marked by hamartomatous brain lesions called cortical tubers and subependymal nodules, which can develop into subependymal giant cell astrocytomas (SEGAs). Cortical tubers are areas where normal cortical architecture is disrupted, with abnormal neurons and large, dysplastic cells that often drive seizures and developmental issues. Subependymal nodules line the ventricles, may calcify, and occasionally grow into SEGAs that can obstruct CSF flow and cause hydrocephalus. This combination—the cortical tubers along with subependymal nodules/SEGAs—is distinctive for tuberous sclerosis.

In contrast, Lewy bodies are associated with synucleinopathies like Parkinson disease and dementia with Lewy bodies, prion plaques with prion diseases such as Creutzfeldt–Jakob disease, and demyelinating plaques with multiple sclerosis.