title: Tuberous sclerosis complex; single center experience.
abstract: OBJECTIVE
  This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature.
  
  
  METHODS
  Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria.
  
  
  RESULTS
  It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients.
  
  
  CONCLUSIONS
  It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of probable tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients.
authors.affiliation: Division of Pediatric Neurology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey.
authors.forename: İlknur
authors.initials: İ
authors.lastname: Erol
authors.affiliation: Division of Pediatric Neurology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey.
authors.forename: Tülin
authors.initials: T
authors.lastname: Savaş
authors.affiliation: Department of Pediatrics, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey.
authors.forename: Sevda
authors.initials: S
authors.lastname: Şekerci
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology Oncology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey.
authors.forename: Nalan
authors.initials: N
authors.lastname: Yazıcı
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology Oncology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey.
authors.forename: Ayşe
authors.initials: A
authors.lastname: Erbay
authors.affiliation: Department of Radiology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey.
authors.forename: Şenay
authors.initials: Ş
authors.lastname: Demir
authors.affiliation: Division of Pediatric Neurology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey.
authors.forename: Semra
authors.initials: S
authors.lastname: Saygı
authors.affiliation: Department of Radiology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey.
authors.forename: Özlem
authors.initials: Ö
authors.lastname: Alkan
keywords: Diagnostic criteria; mammalian target of rapamycin (mTOR); tuberous sclerosis complex