TY  - JOUR
TT  - Characteristic Features of Children with Neurofibromatosis Type 1
AU  - Güneş, Dilek
AU  - Çeçen, Emre
AU  - Özgüven, Ali Aykan
AU  - Gümüş, İlknur
AU  - Toka, Ali
AU  - Eroğlu, Mehmet Emin
AU  - Aksoy, Sinem
AU  - Yazar, Mustafa Eray
PY  - 2008
DA  - December
JF  - Meandros Medical And Dental Journal
JO  - Meandros Med. Den. j.
PB  - Aydin Adnan Menderes University
WT  - DergiPark
SN  - 2149-9063
SP  - 27
EP  - 32
VL  - 9
IS  - 3
KW  - Nörofibromatozis tip 1
KW  - çocukluk çağı
KW  - komplikasyon
KW  - tümör
KW  - tanımlanmamış parlak obje
N2  - PURPOSE: Neurofibromatosis Type 1 (NF-1) is the most common, progressive, multisystemic, autosomal dominant neurocutaneous syndrome. Its clinical features begin to present during childhood. Early diagnosis and follow-up of children with NF-1 is necessary due to predisposition to tumors and complications. Herein we aimed to evaluate patient characteristics', neuroradiologic findings and frequency of tumors in children with NF-1 who have been followed up at our center from January 1989 to June 2008.   MATERIALand METHODS: Medical records of 64 children with NF-1 were analized retrospectively for age, gender, diagnostic criteria for NF-1, unidentified bright objects (UBOs) on magnetic resonance imaging (MRI), complications related to NF-1, and tumors.   RESULTS: The median age of patients was 9.5 years (0.5 18), M:F ratio was 1.2. The incidence of the diagnostic criteria were as following, café au lait spots: 100%, freckling: 62.5%,neurofibromas ± plexiform neurofibromas: 47%, Lisch nodules: 38%, optic gliomas: 11%,distinctive osseous lesions: 11%, and first degree relative with NF- 1: 30%. Cranial MRI had been performed in 38 patients, and 58% of them revealed UBOs. The most common complications were kyphoscoliosis (19%), convulsion (11%). Benign tumors and malignant ± benign tumors developed in52%and19%of patients, respectively.   CONCLUSION: The importance of careful physical examination was showed by the high frequency of positive clinical diagnostic criteria of NF-1. The frequency of UBOs on MRI was high in children with NF-1. This was suggested that neuroradiologic findings may be proposed as an additional diagnostic criterion for NF-1, particularly for young children who didn't meet the diagnostic criteria. Management and follow up of complications related to NF-1, and offering genetic counseling to parents could be making by early diagnosis of NF-1 in childhood. The predisposition to tumors and the high frequencies of complications related to NF-1 were showed that the importance of multidisciplinary follow up of children with NF-1.
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UR  - https://dergipark.org.tr/en/pub/meandrosmdj/issue//543006
L1  - https://dergipark.org.tr/en/download/article-file/676408
ER  -