İlknur Erol1, Tülin Savaş1, Sevda Şekerci2, Nalan Yazıcı3, Ayşe Erbay3, Şenay Demir4, Semra Saygı1, Özlem Alkan4. 1. Division of Pediatric Neurology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey. 2. Department of Pediatrics, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey. 3. Department of Pediatrics, Division of Pediatric Hematology Oncology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey. 4. Department of Radiology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey.
Abstract
AIM: 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. MATERIALS AND METHOD: 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.
AIM: 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. MATERIALS AND METHOD: 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 epilepticseizures and sirolimus treatment had no effect on epilepticseizures. 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: S L Dabora; S Jozwiak; D N Franz; P S Roberts; A Nieto; J Chung; Y S Choy; M P Reeve; E Thiele; J C Egelhoff; J Kasprzyk-Obara; D Domanska-Pakiela; D J Kwiatkowski Journal: Am J Hum Genet Date: 2000-12-08 Impact factor: 11.025
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