NEUROFIBROMATOSIS TYPE 1 IN MULTIPLE SCLEROSIS IN SAUDI ARABIA: CASE REPORT AND LITERATURE REVIEW

Background: Neurofibromatosis type I(NF1) is a neurocutaneous autosomal dominant disorder that has variable skin and neurological manifestation Multiple sclerosis (MS) not among these sequalae of Neurofibromatosis. Only 26 cases have been reported worldwide to the combination two diseases, none them from Saudi Arabia.We are presenting young lady who was diagnosed Sclerosis, Relapsing remitting form as she fitting clinical radiological criteria, by age 29 years, thoroughly investigated for multiple café au lait spot lesions in trunk neurofibromas history childhood seizures. Case Presentation:29-year-old Relapsing- Remitting Sclerosis (RRMS) 7 years ago fulfilling criteria maintained on Interferon beta 1a 44 mcg subcutaneous every other day then shifted Fingolimod. Upon encountering her clinic, there were neurofibromas. Genetic testing showed pathogenic nonsense variant c.574C>T p.(Arg192*) exon 5 NF1 gene. Conclusion:Relapsing can be associated with 1(NF1), only progressive related spontaneous mutation 50% (no family history).