| Literature DB >> 33566141 |
Alessandra D'Amico1,2, Martina Di Stasi2, Lorenzo Ugga2, Teresa Perillo3, Claudia Santoro4,5, Daniela Melis6.
Abstract
Neurofibromatosis type 1 (NF1) is a genetic autosomal dominant disease caused by mutation of the protein neurofibromin, a regulator of cell growth. The most frequent intracranial findings are unidentified bright objects (UBOs), thickening of the corpus callosum, sphenoid wing dysplasia, cerebral vasculopathy, optic and non-optic pilocytic astrocytomas, and plexiform neurofibromas. We report two cases of NF1 patients with asymptomatic olfactory bulbs (OBs) enlargement depicted with Magnetic Resonance Imaging (MRI). To the best of our knowledge, this finding has not been reported in the scientific literature so far. We hypothesize that olfactory bulbs enlargement may have a pathogenetic nature like that of the UBOs as in one of our patients there was spontaneous regression during follow-up. The olfactory bulbs enlargement expands the broad neuroradiological spectrum of finding of NF1. More reports are required to better understand incidence, pathogenesis, and clinical behavior of olfactory bulbs enlargement in NF1 patients.Entities:
Keywords: Magnetic Resonance Imaging; Neurofibromatosis type 1; Olfactory bulbs; Pediatrics
Year: 2021 PMID: 33566141 DOI: 10.1007/s00381-021-05077-z
Source DB: PubMed Journal: Childs Nerv Syst ISSN: 0256-7040 Impact factor: 1.475