Clinical and pathological characteristics of nine cases of tuberous sclerosis in refractory epilepsy

Objective To investigate the clinical pathologic (including immunohistochemical) features of the brain tissue in tuberous sclerosis. Methods The patients with refractory epilepsy underwent brain surgery procedure with pathologically confirmed tuberous sclerosis complex (TSC) in Yuquan Hospital from 2008—2011 were studied retrospectively. Results Nine patients including 7 males and 2 females had medically intractable seizures.The average age of onset was 2.2-years-old and the duration was 5.9 years. Brain CT images showed multiple calcification and MRI images found multiple high signal areas of long T1 and long T2 weighted sequence. Histologically, all cases were characterized by cortical destruction with the hallmark of balloon cells and (or) dysmorphic neurons. By immunostaining, the neurons with destructed morphology showed accumulation of SMI32R and Neurofilament proteins. Balloon cells were stained positive with nestin and vimentin. CD34 was also detectable in few balloon cells. Postsurgical seizure freedom was achieved in all cases: Engel class Ⅰ in 7 patients, and Engel class Ⅱ in 2 patients. Conclusions TSC is diagnosed on the basis of clinical and neuroimaging information, as well as pathological changes. Immunohistochemistry, such as nestin, vimentin, SMI32R and glial fibrillary acidic portein staining can be helpful in the diagnosis of TSC. Surgical procedure for TSC with completed removal of the lesion foci is an effective therapy to treat patients with intractable epilepsy. Key words: Tuberous sclerosis; Epilepsy; Calcinosis