Nida Fatima1, Anna La Dine2, Zachary R Barnard2, Gregory P Lekovic2. 1. Department of Neurosurgery, House Clinic, The House Institute Foundation, Los Angeles, CA, USA. nfatima@hifla.org. 2. Department of Neurosurgery, House Clinic, The House Institute Foundation, Los Angeles, CA, USA.
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.
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.
Authors: Rosalie E Ferner; Susan M Huson; Nick Thomas; Celia Moss; Harry Willshaw; D Gareth Evans; Meena Upadhyaya; Richard Towers; Michael Gleeson; Christine Steiger; Amanda Kirby Journal: J Med Genet Date: 2006-11-14 Impact factor: 6.318
Authors: D Kaufmann; R Müller; B Bartelt; M Wolf; K Kunzi-Rapp; C O Hanemann; R Fahsold; C Hein; W Vogel; G Assum Journal: Am J Hum Genet Date: 2001-10-18 Impact factor: 11.025