Nörofibromatozis tip 1 hastalarının radyolojik ve fenotopik değerlendirilmesi

Yıl 2018, Cilt: 10 Sayı: 4, 413 - 416, 01.12.2018

Olcay Güngör Gülay Güngör Can Acıpayam

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

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. 

Anahtar Kelimeler

Çocuk, manyetik rezonans görüntüleme, nörofibromatozis tip 1

Phenotypic and radiological evaluation of neurofibromatosis type 1 patients

Öz

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.

 

 

 

Anahtar Kelimeler

Child, magnetic resonance imaging, neurofibromatosis type 1

Kaynakça

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