Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava. Neurofibromatosis, genetic disorder, variable clinical manifestation, diagnostic criteria, genetic counselling, malignancy, follow-up, broad cooperation with specialists neurofibromatóza typu 1, variabilné klinické prejavy, diagnostické kritériá, genetické poradenstvo, tumor, klinické sledovanie, multidisciplinárny prístup Keywords Kľúčové slová ACTA FACULTATIS PHARMACEUTICAE UNIVERSITATIS COMENIANAE Abstract / 2 Slovenská akadémia vied, Inštitút molekulárnej fyziológie a genetiky, / 6 Detská fakultná nemocnica Bratislava, Klinika detskej hematológie a onkológie, Bratislava, Slovenská republika 7 Orphanet Slovakia / 7 Orphanet Slovenská republikaNeurofibromatóza typ 1 (NF1) je jedným z najčastejších autozómovo dominantných ochorení, prevažne s miernymi kožnými prejavmi. U skupiny pacientov s NF1 však pozorujeme závažné komplikácie, ako je progresívny glióm zrakového nervu, plexiformný neurofibróm, alebo malígne nádory obalov periférnych nervov. Vzhľadom na potenciálne progresívny a asymptomatický priebeh ochorenia, vyžadujú pacienti s NF1 pravidelné multidisciplinárne sledovanie v spolupráci s rôznymi špecialistami. V tomto článku sme zhrnuli naše dlhoročné skúsenosti z multidisciplinárneho sledovania pacientov s NF1 v centre pre neurofibromatózu typ 1 v detskej fakultnej nemocnici s poliklinikou v Bratislave. Slovak abstractActa Fac. Pharm. Univ. Comen. LXI, 2014 (1)

Genotype–Phenotype Correlation of Novel NF1 Gene Variants Detected by NGS in Patients with Neurofibromatosis Type 1

“…Neurofibromas are seen in 48% of children up to the age of 10 and in 84% of patients up to the age of 20 [23]. Bolceková et al reported that the rate of neurofibroma was 61% in their study [24]. In our study, the frequency of neurofibroma was 12.5%.…”