[A case of intractable epilepsy: diagnosis of tuberous sclerosis based on histopathological findings and immunohistochemical expression of hamartin and tuberin].
We report here a 14-year-old boy suffering from intractable epilepsy since the age of 2. Neuroimaging showed a lesion in the left temporal lobe. He underwent resection of the left temporal lobe and multiple subpial transection of the left frontal lobe at the age of 8. Histopathological findings of surgical specimens were similar to those of tubers of tuberous sclerosis (TSC), although he had no other TSC stigmata. To discriminate from cortical dysplasia grade III, we examined the immunohistochemical expression of hamartin and tuberin, the TSC1 and TSC2 gene products. Based on results, we diagnosed this case as having TSC. He has been seizure free since the operation. Although lower than preoperatively, his intelligence quotient has not been declining progressively.
Takaishi
Yasuko
Y
Department of Pediatrics, Nippon Medical School, Tokyo.
Hashimoto
Kiyoshi
K
Fujino
Osamu
O
Arai
Nobutaka
N
Mizuguchi
Masashi
M
Maehara
Taketoshi
T
Shimizu
Hiroyuki
H
D000293:Adolescent; D004827:Epilepsy / Q000209:etiology*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D014176:Protein Biosynthesis; D011506:Proteins; D012097:Repressor Proteins / Q000096:biosynthesis; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
D011506:Proteins; D012097:Repressor Proteins; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins