Phenotypic and radiological evaluation of neurofibromatosis type 1 patients

Olcay Güngör; Gülay Güngör; Can Acıpayam

doi:10.21601/ortadogutipdergisi.417943

ORTADOĞU TIP DERGİSİ - ORTADOGU MEDICAL JOURNAL

Phenotypic and radiological evaluation of neurofibromatosis type 1 patients

Nörofibromatozis tip 1 hastalarının radyolojik ve fenotopik değerlendirilmesi

Olcay Güngör ¹ ^* , Gülay Güngör ², Can Acıpayam ³

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Ortadogu Tıp Derg, Volume 10, Issue 4, pp. 413-416

https://doi.org/10.21601/ortadogutipdergisi.417943

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Abstract

Aim: The aim of our study is to evaluate the clinical and radiological features of children with neurofibromatosis type 1.
Material and Method: The patients who were followed up and treated with neurofibromatosis type 1 in Department of Pediatric Neurology at Sutcu Imam University between the years of 2013-2016 were retrospectively evaluated clinically and radiologically.
Results: Twenty one children were included in this study. Of those, 11 were boys and 10 were girls. Fourteen cases (28.6%) had a family history. The mean age of the children was 10.41±3.05 years. Lisch nodules were observed in 11 patients, and axillary freckling in 7 patients. There were neurofibromas in 5 cases (23.8%). Plexiform neurofibromas were not detected in any of the cases. Scoliosis was seen in 4 patients (19%). Six of the cases (28.5%) had learning difficulties.
Conclusion: Early diagnosis of NF-1 is very important to inform families about the disease and prevent treatable complications with regular follow-up of these children.

Keywords: Child, magnetic resonance imaging, neurofibromatosis type 1

Öz

Amaç: Çocukluk çağı nörofibromatozis tip 1 olgularımızın klinik ve radyolojik bulgularının değerlendirilmesi
Gereç ve Yöntem: 2013-2016 yılları arasında Sütçü İmam Üniversitesi Tıp Fakültesi Çocuk Nöroloji Bilim Dalı’nda nörofibromatozis tanısı ile takip ve tedavileri yapılan hastaların klinik ve radyolojij özellikleri retrospektif olarak değerlendirildi.
Bulgular: Çalışma grubuna 21 çocuk dahil edildi. Bunlardan 11’i erkek ve 10’u kızdı. Yaş ortalaması 10.41±3.05 yıl saptandı. On dört (%28,6) olguda aile öyküsü mevcuttu. On bir (%52,3) hastada Lisch nodülü ve 7 (%33,3) hastada koltukaltı çillenmesi görüldü. Olguların 5 (%23,8)’inde nörofibrom vardı. Olguların hiçbirinde pleksiform nörofibrom saptanmadı. Dört (%19) hastada skolyoz görülmüştür. Olguların 6’sında (%28,5) öğrenme güçlüğü vardı.
Sonuç: Nörofibromatozis tip 1’in erken tanısı; ailelerin hastalık hakkında bilgilendirilmesi ve bu çocukların düzenli klinik takibi ile tedavi edilebilir komplikasyonları önlemek açısından çok önemlidir.

Keywords: Çocuk, manyetik rezonans görüntüleme, nörofibromatozis tip 1

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Citation

Güngör O, Güngör G, Acıpayam C. Phenotypic and radiological evaluation of neurofibromatosis type 1 patients. Ortadogu Tıp Derg. 2018;10(4):413-6. https://doi.org/10.21601/ortadogutipdergisi.417943

Güngör, O., Güngör, G., & Acıpayam, C. (2018). Phenotypic and radiological evaluation of neurofibromatosis type 1 patients. Ortadoğu Tıp Dergisi, 10(4), 413-416. https://doi.org/10.21601/ortadogutipdergisi.417943

Güngör, O., Güngör, G., and Acıpayam, C. (2018). Phenotypic and radiological evaluation of neurofibromatosis type 1 patients. Ortadoğu Tıp Dergisi, 10(4), pp. 413-416. https://doi.org/10.21601/ortadogutipdergisi.417943

Güngör O, Güngör G, Acıpayam C. Phenotypic and radiological evaluation of neurofibromatosis type 1 patients. Ortadogu Tıp Derg. 2018;10(4), 413-416. https://doi.org/10.21601/ortadogutipdergisi.417943

Güngör, Olcay, Gülay Güngör, and Can Acıpayam. "Phenotypic and radiological evaluation of neurofibromatosis type 1 patients". Ortadoğu Tıp Dergisi 2018 10 no. 4 (2018): 413-416. https://doi.org/10.21601/ortadogutipdergisi.417943

Güngör, Olcay et al. "Phenotypic and radiological evaluation of neurofibromatosis type 1 patients". Ortadoğu Tıp Dergisi, vol. 10, no. 4, 2018, pp. 413-416. https://doi.org/10.21601/ortadogutipdergisi.417943