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Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding

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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.

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Authors

Contributions

Conceptualization: Alessandra D’Amico.

Methodology: Alessandra D’Amico, Martina di Stasi, Lorenzo Ugga, Daniela Melis.

Formal analysis: Lorenzo Ugga.

Data curation: Martina di Stasi, Daniela Melis, Claudia Santoro.

Writing—original draft preparation: Martina di Stasi, Lorenzo Ugga, Teresa Perillo

Writing—review and editing: Martina di Stasi, Lorenzo Ugga, Teresa Perillo

Supervision: Alessandra D’Amico, Daniela Melis, Claudia Santoro.

All authors have read and agreed to the published version of the manuscript.

Corresponding author

Correspondence to Teresa Perillo.

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D’Amico, A., Di Stasi, M., Ugga, L. et al. Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding. Childs Nerv Syst 37, 2927–2930 (2021). https://doi.org/10.1007/s00381-021-05077-z

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  • DOI: https://doi.org/10.1007/s00381-021-05077-z

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