Segmental spinal neurofibromatosis 1: a novel phenotype.
Publication/Presentation Date
8-1-2022
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.
Volume
43
Issue
8
First Page
5103
Last Page
5105
ISSN
1590-3478
Published In/Presented At
Fatima, N., La Dine, A., Barnard, Z. R., & Lekovic, G. P. (2022). Segmental spinal neurofibromatosis 1: a novel phenotype. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 43(8), 5103–5105. https://doi.org/10.1007/s10072-022-06139-z
Disciplines
Medicine and Health Sciences
PubMedID
35595873
Department(s)
Department of Surgery Faculty
Document Type
Article