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Neurological Sciences

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20-05-2022 | Neurofibromatosis | Brief Communication

Segmental spinal neurofibromatosis 1: a novel phenotype

Authors: Nida Fatima, Anna La Dine, Zachary R. Barnard, Gregory P. Lekovic

Published in: Neurological Sciences | Issue 8/2022

Abstract

Introduction

Segmental neurofibromatosis (SNF) is a rare subtype of neurofibromatosis (NF). The disease is characterized by features circumscribed to one or more body cutaneous and/or subcutaneous segments. This is a classic example of somatic mosaicism which occurs by postzygotic mut ation of the NF1 gene late in the course of embryonic development affecting localized neural crest lines in the fetus. Spinal neurofibromatosis, on the other hand, is characterized by histologically proven bilateral neurofibromas of the spinal roots.

Methods

Hereby we describe a novel manifestation of spinal SNF.

Results

Our case report demonstrated one patient who had segmental spinal expression of the disease classified as true mosaic/segmental NF1 along with its management plan treated at one of the largest NF1 centers to exist.

Conclusion

This will aid in understanding the rare clinical presentation and treatment options for this novel phenotype.

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Title: Segmental spinal neurofibromatosis 1: a novel phenotype
Authors: Nida Fatima
Anna La Dine
Zachary R. Barnard
Gregory P. Lekovic
Publication date: 20-05-2022
Publisher: Springer International Publishing
Keywords: Neurofibromatosis
Neurofibromatosis
Published in: Neurological Sciences / Issue 8/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-022-06139-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Segmental spinal neurofibromatosis 1: a novel phenotype

Abstract

Introduction

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Methods

Results

Conclusion

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