Çocukluk çağı nörokütanöz hastalık olgularının klinik, radyolojik ve takip bulguları ile değerlendirilmesi
Küçük Resim Yok
Tarih
2025
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
İnönü Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: Bu çalışmada Nörofibromatozis Tip 1 (NF1) ve Tüberoz skleroz Kompleksi (TSK) tanısı alan pediatrik olguların klinik, radyolojik ve sistemik bulgularının değerlendirilmesi amaçlandı. Gereç ve Yöntem: 2010-2024 yılları arasında İnönü Üniversitesi Tıp Fakültesi Çocuk Nöroloji Kliniğinde izlenen 145 NF1 ve 53 TSK tanılı hastanın verileri hastane kayıtlarından retrospektif olarak incelendi. Bulgular: NF1 tanılı 145 hastanın ortalama tanı yaşı 75,2 ± 56,7 ay (ortalama: 75,24 ay) saptandı. Hastaların 74'ü (%51,0) kız, 71'i (%49,0) erkekti ve 68'inde (%46,9) aile öyküsü vardı. NF1 tanılı hastaların 13'ünde (%9,0) epilepsi saptandı. Beyin MRG'de 107'sinde (%73,8) hiperintens lezyon gözlendi. Hastaların yaş gruplarına göre epilepsi, psikiyatrik bulgular, EEG ve MRG bulgularının karşılaştırmasında istatistiksel anlamlı bir fark saptanmadı (p>0,05). Bununla birlikte erkek hastalarda psikiyatrik komorbiditelerin gelişimi daha yüksek olup, anlamlı bulundu (p=0,047). Benzer şekilde erkeklerde hiperintens lezyonlar daha fazla saptandı ve istatistiksel anlamlı olduğu gözlendi (p=0,034). Ancak, epilepsi açısından cinsiyetler arasında istatistiksel anlamlı bir fark bulunmadı (p>0,05). TSK tanılı 53 hastanın ortalama tanı yaşı 37,4 ± 47,3 ay (ortalama: 37,4 ay) saptandı. Hastaların 19'u (%35,8) kız ve 34'ü (%64,2) erkekti ve 12'sinin (%22,6) aile öyküsü mevcuttu. TSK tanılı hastaların 41'inde (%77,4) epilepsi gözlendi. TSK'lı hastaların yaş gruplarına göre MRG'deki hiperintens lezyonların 2 yaş altında ve ergen yaş grubunda daha sık görüldüğü, bu farkın istatistiksel anlamlı olduğu saptandı (p=0,041). Ancak epilepsi, psikiyatrik sonuçlar ve EEG bulgularının yaş grupları ve cinsiyet açısından karşılaştırılmasında anlamlı bir farklılık saptanmadı (p>0,05). Sonuç: Çalışma verilerimiz yaş ve cinsiyete bağlı olarak belirli klinik ve radyolojik bulgularda farklılıklar görülebileceğini göstermektedir. Bu durum, hasta takibinde kişiselleştirilmiş yaklaşımların önemini desteklemektedir. Anahtar Kelimeler: Nörokütanöz hastalıklar, Nörofibromatozis Tip 1, Tüberoz skleroz, klinik bulgular, radyolojik bulgular, çocukluk çağı.
Objective: The aim of this study was to evaluate the clinical, radiological and systemic findings of pediatric cases diagnosed with Neurofibromatosis Type 1 (NF1) and Tuberous Sclerosis Complex (TSC). Materials and Methods: Data of 145 patients diagnosed with NF1 and 53 patients diagnosed with TSC who were followed up at the Inonu University Faculty of Medicine, Pediatric Neurology Clinic between 2010 and 2024 were retrospectively examined from hospital records. Results: The mean age at diagnosis of 145 patients with NF1 was 75.2 ± 56.7 months (mean: 75.24 months). Of the patients, 74 (51.0%) were female, 71 (49.0%) were male, and 68 (46.9%) had a family history. Epilepsy was detected in 13 (9.0%) of the patients diagnosed with NF1. Hyperintense lesions were observed in 107 (73.8%) of the brain MRI. No statistically significant difference was found in the comparison of epilepsy, psychiatric findings, EEG and MRI findings according to the age groups of the patients (p>0.05). However, the development of psychiatric comorbidities was higher in male patients and was found to be significant (p=0.047). Similarly, hyperintense lesions were detected more in males and were observed to be statistically significant (p=0.034). However, no statistically significant difference was found between genders in terms of epilepsy development (p>0.05). The mean age at diagnosis of 53 patients with TSC was 37.4 ± 47.3 months (mean: 37.4 months). Nineteen (35.8%) of the patients were female, 34 (64.2%) were male, and 12 (22.6%) had a family history. Epilepsy was observed in 41 (77.4%) patients diagnosed with TSC. According to the age groups of TSC patients, hyperintense lesions in MRI were seen more frequently in children under 2 years of age and in the adolescent age group, and this difference was found to be statistically significant (p=0.041). However, no significant difference was found in the comparison of epilepsy, psychiatric results and EEG findings in terms of age groups and gender (p>0.05). Conclusion: Our study data show that differences in certain clinical and radiological findings may be observed depending on age and gender. This supports the importance of personalized approaches in patient follow-up. Keywords: Neurocutaneous diseases, Neurofibromatosis Type 1, Tuberous sclerosis, clinical findings, radiological findings, childhood.
Objective: The aim of this study was to evaluate the clinical, radiological and systemic findings of pediatric cases diagnosed with Neurofibromatosis Type 1 (NF1) and Tuberous Sclerosis Complex (TSC). Materials and Methods: Data of 145 patients diagnosed with NF1 and 53 patients diagnosed with TSC who were followed up at the Inonu University Faculty of Medicine, Pediatric Neurology Clinic between 2010 and 2024 were retrospectively examined from hospital records. Results: The mean age at diagnosis of 145 patients with NF1 was 75.2 ± 56.7 months (mean: 75.24 months). Of the patients, 74 (51.0%) were female, 71 (49.0%) were male, and 68 (46.9%) had a family history. Epilepsy was detected in 13 (9.0%) of the patients diagnosed with NF1. Hyperintense lesions were observed in 107 (73.8%) of the brain MRI. No statistically significant difference was found in the comparison of epilepsy, psychiatric findings, EEG and MRI findings according to the age groups of the patients (p>0.05). However, the development of psychiatric comorbidities was higher in male patients and was found to be significant (p=0.047). Similarly, hyperintense lesions were detected more in males and were observed to be statistically significant (p=0.034). However, no statistically significant difference was found between genders in terms of epilepsy development (p>0.05). The mean age at diagnosis of 53 patients with TSC was 37.4 ± 47.3 months (mean: 37.4 months). Nineteen (35.8%) of the patients were female, 34 (64.2%) were male, and 12 (22.6%) had a family history. Epilepsy was observed in 41 (77.4%) patients diagnosed with TSC. According to the age groups of TSC patients, hyperintense lesions in MRI were seen more frequently in children under 2 years of age and in the adolescent age group, and this difference was found to be statistically significant (p=0.041). However, no significant difference was found in the comparison of epilepsy, psychiatric results and EEG findings in terms of age groups and gender (p>0.05). Conclusion: Our study data show that differences in certain clinical and radiological findings may be observed depending on age and gender. This supports the importance of personalized approaches in patient follow-up. Keywords: Neurocutaneous diseases, Neurofibromatosis Type 1, Tuberous sclerosis, clinical findings, radiological findings, childhood.
Açıklama
Anahtar Kelimeler
Çocuk Sağlığı ve Hastalıkları, Child Health and Diseases
