"Tuberous sclerosis typically presents in the first decade of life and has a reported incidence of 1:6000-12000 1 with intracranial involvement in the vast majority of patients, mainly cortical tubers or subependymal nodules."
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"In medically-refractory epilepsy (50-80% of TS cases), surgical excision of the tuber can be considered with a view to improving seizure frequency and control, with possible improvement in cognitive function 2,3."
"In the clinical context of known tuberous sclerosis, the appearance is virtually pathognomonic. The presence of other findings (subependymal nodules, subependymal giant cell astrocytomas, white matter abnormalities) or extra-CNS findings will help."
"There is significant variation in the presentation of tuberous sclerosis, dependent on the distribution and burden of hamartomata throughout the body."
"Cortical tubers may be epileptogenic foci, presenting with focal seizures or infantile spasms. Cortical tubers may also contribute to cognitive defects or autistic/neurobehavioural traits in some patients 1. These symptoms were part of the original Vogt triad, and cortical tubers remain one of the major features in the diagnostic criteria for tuberous sclerosis 5. There is an association between worse neurological outcome with a greater burden of cortical tubers 6."
"Giant cells can demonstrate variable immunoreactivity to vimentin, S100 protein, glial fibrillary acidic protein, class III b-tubulin, nestin, neurofilament, synoptophysin 3,7."