Clinical and Radiological Features of Neurofibromatosis type 1: Single center's experience

Abstract

INTRODUCTION: The aim of this study was to review our institutional experience with the clinical characteristics, imaging findings, and therapies in Neurofibromatosis type 1 (NF1) and defining the patients according to the USA- National Institute of Health (NIH) diagnostic criteria and comparing them with the literature. METHODS: Clinical and imaging findings of 18 children with NF1, treated at our hospital from January 2015 to January 2019, were retrospectively evaluated. RESULTS: The study group included 18 children diagnosed with NF1 according to NIH diagnostic criteria. Thirteen patients were female and 5 were male. The median age at admission was 8 years (1-17 years). The presenting symptoms were cafe-au-laits spots in 16 cases, abdominal pain in 1 case and jaw swelling in 1 case. All patients had cafe-au-lait spots, 9 (50%) axillary / inguinal freckles, 13 (72.22%) lisch nodules, 3 (16.66%) bone lesions, 1 (5.55%) neurofibromas and 1 (5.55%) plexiform neurofibromas. Short stature was detected in 3 (16.66%) cases. One of them was evaluated as growth hormone deficiency. Of the 10 patients attending school, 5 (27.77%) had poor school performance. Two of these cases (11.11%) were being diagnosed with ADHD. On magnetic resonance imaging, 6 (33.33%) cases had hamartomatous lesion and 1 (5.55%) case optic glioma. DISCUSSION AND CONCLUSION: We found that the clinical and radiological findings of the patient group were consistent with the literature. Multidisciplinary follow-up of patients throughout the lifetime is necessary for the early detection, follow-up and treatment of complications.

Keywords

• neurofibromatosis type 1
• children
• cancer predisposition