AI Summary & Key Takeaways
AI InsightIt was found that siroli-mus treatment was given to 9 of 20 patients because of different reasons,7 of these 9 patients had epileptic seizures and sirolimus treatment hadno effect on epileptic seizures.
📌 3 Key Takeaways
Abstract
Aim: This study was planned with the aim of retrospectively reviewingthe clinical and laboratory fndings and therapies of our patients diag-nosed with tuberous sclerosis and redefning the patients according tothe diagnostic criteria revised by the 2012 International Tuberous Sclero-sis Complex Consensus Group and comparing them with the literature.Material and Methods: 20 patients diagnosed with tuberous sclerosiscomplex in the Pediatric Neurology Clinic were examined retrospectivelyin terms of clinical fndings and therapies. The diagnoses were com-pared again according to 1998 and 2012 criteria.Results: It was observed that the complaint at presentation was seizurein 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 pa-tients. On the initial physical examination, imaging fndings related withthe disease were found in the skin in 17 of the patients, in the eye in 5, inthe kidneys in 7 and in the brain in 17. No cardiac involvement was ob-served in the patients. Infantile spasm was observed in 7 of the patientswho presented because of seizure (n=17), partial seizure was observed in7 and multiple seizure types were observed in 3. It was found that siroli-mus treatment was given to 9 of 20 patients because of different reasons,7 of these 9 patients had epileptic seizures and sirolimus treatment hadno effect on epileptic seizures. According to 2012 diagnostic criteria, nomarked change occured in the diagnoses of our patients.Conclusions : It was observed that the signs and symptoms of our pa-tients were compatible with the literature. Molecular genetic examina-tion was planned for the patients who were being followed up becauseof possible tuberous sclerosis complex. It was observed that sirolimustreatment had no marked effect on the seizure frequency of our patients.
Özet
Amaç: Bu çalışma, tüberoskleroz kompleksi tanısı konulan olgularımızın klinik, laboratuvar bulgularını ve tedavilerini geriye dönük olarakgözden geçirmek ve 2012 yılında Uluslararası Tüberoskleroz KomplekKonsensus Grubu tarafından yeniden belirlenen tanı ölçütlerine görehastaları yeniden tanımlayarak literatür ile karşılaştırmak amacıylaplanlanmıştır.Gereç ve Yöntemler: Çocuk Nöroloji Kliniğinde 20 tüberosklerozkompleksi tanılı hasta klinik bulguları ve tedavileri yönünden geriyedönük olarak incelendi. Tanılar 1998 ve 2012 ölçütlerine göre tekrakarşılaştırıldı.Bulgular: Başvuru yakınmasının hastaların 17/20sinde nöbet, 3/20sinde ise ciltte hipopigmente lekelenmeler olduğu görüldü. İlk fzik bakıdaolguların 17sinde cilt, 5inde göz, 7sinde renal, 17sinde beyin görüntülemede hastalık ile ilişkili bulgular saptandı. Olgularda kalp tutulumu gözlenmedi. Nöbet nedeniyle başvuran olguların (n=17) yedisindeinfantil spasm, yedisinde parsiyel nöbet, üçünde ise birden fazla nöbetipi izlendi. Hastaların 9/20sine değişik nedenler ile sirolimus tedavisverildiği, bu olguların 7/9unda epileptik nöbetlerin olduğu ve sirolimus tedavisinin epileptik nöbetler üzerine etkisi olmadığı saptandıİki bin on iki tanı ölçütlerine göre hastalarımızın tanılarında belirgindeğişiklik yoktu.Çıkarımlar: Hastalarımızın belirti ve bulgularının literatür ile uyumluolduğu gözlendi. Olası tüberoskleroz kompleksi olarak izlenmekte olanhastalardan moleküler genetik inceleme planlandı. Sirolimus tedavisinin hastalarımızın nöbet sıklığı üzerine belirgin bir etkisi olmadığgözlendi.