title: Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86.
abstract: OBJECTIVE
  Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in various organ systems. We would like share our experience from 86 patients and the results of rapamycin treatment in seven children with TSC.
  
  
  METHODS
  Eighty-six children with TSC were enrolled into this retrospective study. The clinical features of seven children treated with oral rapamycin were presented in detail.
  
  
  RESULTS
  The most common complaint of administration was convulsion in 77 children (89.5%). Hypopigmented skin lesions, adenoma sebaceum, resistant epilepsy, intracardiac mass, renal angiomyolipomas, and West syndrome were detected (n = 83, 96.5%; n = 47, 54.7%; n = 36, 41.9%; n = 27, 31.4%; n = 18, 20.9%; and n = 13, 15.1%, respectively). Subependymal nodules were the most frequent finding in cranial imaging followed by cortical tubers and subependymal giant cell astrocytomas (n = 75, 87.2%; n = 71, 82.6%; and n = 8, 9.3%, respectively). Of the seven patients treated with rapamycin, the lesions of six children with facial adenoma sebaceum showed regression in various degrees. The frequency of convulsions decreased in five patients with resistant epilepsy within the first 6 months of the treatment, and complete control of convulsion for all patients was achieved in the second 6 months.
  
  
  CONCLUSIONS
  This is the first study that showed that rapamycin is an effective agent for controlling epilepsy without any significant side effect in children with TSC. Rapamycin seems to be effective after 6 months of therapy, and we recommend tapering the dosage after successful management of epilepsy.
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, 38039, Kayseri, Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Canpolat
authors.forename: Huseyin
authors.initials: H
authors.lastname: Per
authors.forename: Hakan
authors.initials: H
authors.lastname: Gumus
authors.forename: Ali
authors.initials: A
authors.lastname: Yikilmaz
authors.forename: Ekrem
authors.initials: E
authors.lastname: Unal
authors.forename: Turkan
authors.initials: T
authors.lastname: Patiroglu
authors.forename: Levent
authors.initials: L
authors.lastname: Cinar
authors.forename: Ali
authors.initials: A
authors.lastname: Kurtsoy
authors.forename: Sefer
authors.initials: S
authors.lastname: Kumandas
mesh_terms: D000903:Antibiotics, Antineoplastic / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000188:drug therapy* / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D020123:Sirolimus / Q000627:therapeutic use*; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000150:complications / Q000188:drug therapy* / Q000473:pathology; D055815:Young Adult
chemical_list: D000903:Antibiotics, Antineoplastic; D020123:Sirolimus