Objectives: The aim of this study is to evaluate clinical, laboratory, and Imaging studies of tuberous sclerosis complex (TSC) cases at the national level in Turkey.
Methods: Patients who were diagnosed with TSC between January 2010 to January 2022 through a 23 centered retrospective study in Turkey and were followed up for at least 3 months, presenting complaints, demographic data, radiological findings, specific organ involvement, medical and surgical treatment options, response to treatment and follow-up.
Results: Totaly 714 patients, newborn to 18 years, mean age at onset was 44,4 months with 71.4 months follow-up time. 70% were presented with epilepsy, %11.6 with only skin lesions, 0,3% with learning problems, and %18.2 with other problems. 82% of total cases (n:586) had epilepsy with a mean onset of 22.6 months and 195/586 were followed up with West syndrome. Intellectual disability was 87,3% (40.1% borderline, 25.5% mild, 13.4% moderate, 6% severe and 1.4% very severe). Autism spectrum disorder 14 % (100/714) and attention deficit hyperactivity disorder 14.1%(101/714) were not rare.
Conclusion: TSC is a complex disorder that is associated with many organs and systems. In this study, the frequency of cranial involvement at the time of admission was high. We observed that in the absence of serious acute complaints such as seizures, the first admission age was older. Neurophysiologic markers are needed to define epileptogenesis for early antiepileptogenic therapies.
Keywords: tuberous sclerosis, epilepsy, child
Hüseyin Per
Mehmet Canpolat
Erciyes University Faculty of Medicine, Department of Pediatric Neurology
Ayten Güleç
Erciyes University Faculty of Medicine, Department of Pediatric Neurology
Esra Serdaroğlu
Gazi University Faculty of Medicine, Department of Pediatric Neurology
Yavuz Ataş
Ege University Faculty of Medicine, Department of Pediatric Neurology
İlknur Erol
Baskent University Adana Turgut Noyan Hospital, Department of Pediatric Neurology
Aydan Değerliyurt
Ankara City Hospital, Department of Pediatric Neurology
Betül Kılıç
Medipol University Faculty of Medicine, Department of Pediatric Neurology
Meltem Çobanoğullları Direk
Mersin University Faculty of Medicine, Department of Pediatric Neurology
Gökçen Öz Tunçer
Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Neurology
Selcan Öztürk
Kürşat Bora Çarman
Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Neurology
Ebru Arhan
Seda Kanmaz
Ege University Faculty of Medicine, Department of Pediatric Neurology
Yasemin Ozkale
Medipol University Faculty of Medicine, Department of Pediatric Neurology
Meryem Hilal Altaş
Ankara City Hospital, Department of Pediatric Neurology
Emek Uyur Yalçın
ZEYNEP KAMIL WOMEN'S AND CHILDREN'S DISEASES EDUCATION AND RESEARCH HOSPITAL
Uluç Yiş
Dokuz Eylul University Medical University, Department of Pediatric Neurology
Serdal Güngör
İnönü University Medical University, Department of Pediatric Neurology
Dilşad Türkdoğan
Ali Cansu
Karadeniz Technical University Faculty of Medicine, Department of Pediatric Neurology
Bülent Ünay
Gulhane training and research hospital, Department of Pediatric Neurology
Yasemin Topçu
drytopcu@yahoo.co.uk
Türkan Uygur Şahin
turkanuygur@gmail.com
Nihal Olgaç Dündar
Izmir Katip Celebi University, SBU Tepecik Training and Research Hospital, Department of Pediatric Neurology
Aslihan Akdamar Kayar
Erciyes University Faculty of Medicine, Department of Pediatric Neurology
Şeyda Besen
Baskent University Adana Turgut Noyan Hospital, Department of Pediatric Neurology
Ömer Karaca
Kocaeli University Faculty of Medicine, Department of Pediatric Neurology
Sevinç Keskin Keçecioğlu
Ankara City Hospital, Department of Pediatric Neurology
Tuğba Hirfanoğlu
Hepsen Mine Serin
Ege University Faculty of Medicine, Department of Pediatric Neurology
Kürşad Aydın
Medipol University Faculty of Medicine, Department of Pediatric Neurology
Gülbahar Kurt Bayır
Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Neurology
Coşkun Yarar
Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Neurology
Sibğatullah Ali Orak
Nilufer Eldeş Hacıhafızoglu
10. ZEYNEP KAMIL WOMEN'S AND CHILDREN'S DISEASES EDUCATION AND RESEARCH HOSPITAL
Ayşe Semra Hız
Dokuz Eylul University Medical University, Department of Pediatric Neurology
Bilge Özgör
İnönü University Medical University, Department of Pediatric Neurology
Burcu Karakayalı
Marmara University Medical University, Department of Pediatric Neurology
Nihal Yıldız
Karadeniz Technical University Faculty of Medicine, Department of Pediatric Neurology
Çisil Çerçi
Celal Bayar University Faculty of Medicine, Department of Pediatric Neurology
Hülya İnce
VM Medical Park Samsun Hospital, Department of Pediatric Neurology
Rojan İpek
Adıyaman Training and Research Hospital, Department Pediatric Neurology
Dilek Çavuşoğlu
Afyonkarahisar University of Health Sciences, Department of Pediatric Neurology
Canan Üstün
Gulhane training and research hospital, Department of Pediatric Neurology
Çetin Okuyaz
Mersin University Faculty of Medicine, Department of Pediatric Neurology
Ayşegül Danış
Hakan Gümüş
Erciyes University Faculty of Medicine, Department of Pediatric Neurology
Ayşe Serdaroğlu
Turkish Tuberous Sclerosis Study Group
