MACROSCOPIC DESCRIPTION:
- "Opercular polar": Two fragments of cortex and white matter up to 10mm and 8mm. A separate wedge of cortex and white matter measuring 10x10x8mm.
- "Frontal Polar": Fragments of cortex and white matter up to 10mm and a separate wedge of cortex and white matter 20x10x5mm.
- "Frontal parasagittal": A wedge shaped piece of cerebral cortex and white matter measuring 15x10x22mm.
MICROSCOPIC DESCRIPTION:
Sections of each of the three specimens show similar features of distortion of white matter and cortical architecture by a disorganized arrangement of astrocytes mixed with TS cells typical of tubers in Tuberous Sclerosis. The TS cells have enlarged vesicular nuclei with conspicuous nucleoli and a large amount of eosinophilic cytoplasm with coarse peripheral processes. The TS cells show strong cytoplasmic immunostaining for GFAP and nestin and weak staining for synaptophysin. There is also strong cytoplasmic staining and moderate nuclear staining for p16. There of loss of normal cortical laminar architecture. Moderate numbers of enlarged dysmorphic neurones are also noted. No balloon neurones are identified. There is reduced myelin within the lesions. No features of a glial or neuronal tumour are seen.
FINAL DIAGNOSIS: Tubers consistent with tuberous sclerosis.