Case Report
DURAL ECTASIA WITH BONE SCALLOPING AND CERVICAL MENINGOCELE: A PREDICTIVE SIGN OF NEUROFIBROMATOSIS TYPE 1
1 Department of Neuroradiology, City of Brescia Clinical Institute, Brescia, Italy
2 Oberdan Specialist Outpatient Clinic, Brescia Italy
3 Oberdan Specialist Outpatient Clinic, Brescia, Italy
Correspondence to:
Neuroradiology Service,
Clinical Institute City of Brescia,
Via Bartolomeo Gualla 15,
Brescia, Italy
Journal of Orthopedics 2024 January-April; 16(1): 37-41
Received: 27 February 2024 Accepted: 29 March 2024
Copyright © by LAB srl 2024 ISSN 2975-1276
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Abstract
Neurofibromatosis (NF) is a group of rare genetic disorders characterized by the formation of benign tumors, predominantly neurofibromas, along the peripheral and central nervous system, as well as in other mesodermal and ectodermal tissues. The main clinical forms of NF include NF type 1 (NF1), NF type 2 (NF2), and schwannomatosis, each with specific genetic and phenotypic characteristics. NF1, the most common form, has an incidence of 1 in 3,000 live births and is associated with mutations in the NF1 gene on chromosome 17, responsible for the production of neurofibromin. This protein regulates the RAS-MAPK signaling pathway. Aberrant activation of this pathway leads to uncontrolled cellular proliferation, with clinical manifestations such as café-au-lait spots, neurofibromas, optic gliomas, and skeletal dysplasias.
Keywords: chromosome, mutation, neurofibromas, neurofibromatosis, NF, schwannomatosis
