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PP-35 Clinical features and therapeutic options in children with neurofibromatosis 1: a single centre experience
  1. Samardzic1,
  2. Milenkovic2,
  3. Nikolic2,
  4. Ivancevic2,
  5. Hencic1,
  6. Jancic2
  1. 1Medical Faculty, University of Belgrade, BELGRADE, Serbia
  2. 2Clinic of Neurology and Psychiatry for Children and Youth, BELGRADE, Serbia

Abstract

Background Neurofibromatosis type 1 (NF1) is a genet-ic disorder that affects the growth and development of nerve cell tissue, with subsequent development of mul-tiple benign tumours of the nervous system and the skin, as well as the areas of abnormal skin colour and other clin-ical manifestations. Our study aimed to examine the in-cidence of clinical features and diagnostic parameters of NF1, as well as to identify the current therapeutic options.

Methods We analysed retrospectively the medical doc-umentation of the patients of the Clinic of Neurology and Psychiatry for Children and Youth in Belgrade, in the peri-od from 2003–2016, fulfilling clinical diagnostic criteria for NF1. In addition to demographic data, the clinical mani-festations were obtained based on diagnostic criteria, ad-ditional clinical manifestations and supplementary diag-nostic tests. In statistical analysis, we used the methods of descriptive statistics, χ² and Mann-Whitney test. In order to identify the current treatment for the NF1, we analysed the recent pharmacological data, as well as the clinical tri-als registered in the ClinicalTrials.gov registry.

Results The study group consisted of 65 patients (35 males/30 females) up to 18 years old at the first exam-ination. Multiple café au lait spots (patches of tan or light brown skin) were present in all patients (65, 100%). The frequency of axillary and inguinal freckles and Lisch nodules were 70.8% and 61.5%, respectively, while neu-rofibromas (cutaneous, subcutaneous and plexiform) were present in 66.2% of patients. Glioma optic pathway (GOP) was present in 13.2%, pathological findings of visu-al evoked potentials (VEP) were recorded in one third of patients, epilepsy with 10.8% and pathological electroen-cephalographic (EEG) patterns were described at 27.7% patients. Unidentified bright objects (UBO) on the MRI were described in 50.0% of patients, with no statistical dif-ferences regarding to the age of patients (p=0.635). Char-acteristic bone lesions were diagnosed in 27.7% patients, and positive family history was in 63.1%. Mental disorders and learning disabilities were diagnosed in 26.2% of patients. Furthermore, there was no correlation between the appearance of axillary/inguinal spots and Lisch nod-ules regarding to the age of patients (p=0.419; p=0.521, respectively); however, there was a statistically significant correlation between GOP and VEP (p=0.003). The current NF1 treatment includes the symptomatic therapy, includ-ing surgery and chemotherapy, while the specific treat-ment is not available yet. A total of 122 clinical trials were identified in the ClinicalTrials.gov registry; however, there are only few, phase 2, interventional studies in children: with mTOR inhibitors (sirolimus and everolimus) and RAS kinase inhibitor (tapifarnib).

Conclusion NF1 is a multi-system disease that requires multidisciplinary approach and monitoring. The wide range of clinical features, inability to predict the severity of features/complications and limited therapeutic options make NF1 management a real clinical challenge. Future directions: to find therapeutic strategies or specific mol-ecule(s) to prevent/treat the harmful NF1 complications.

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