Open AccessNEUROFIBROMATOSIS TYPE 1 IN MULTIPLE SCLEROSIS IN SAUDI ARABIA: CASE REPORT AND LITERATURE REVIEW
Author(s) -
Kawther Hadhiah,
Abdulla Al-Fajri,
Hassan Ali Al-Dandan,
Jumana Al-Atiya
Publication year - 2021
Publication title -
international journal of advanced research
Language(s) - English
Resource type - Journals
ISSN - 2320-5407
DOI - 10.21474/ijar01/12911
Subject(s) - medicine , neurofibromatosis , multiple sclerosis , trunk , pediatrics , family history , neurofibromatosis type i , dermatology , café au lait spot , pathology , surgery , immunology , ecology , biology
Background: Neurofibromatosis type I(NF1) is a neurocutaneous autosomal dominant disorder that has variable skin and neurological manifestation and Multiple sclerosis (MS) is not among these neurological sequalae of Neurofibromatosis. Only 26 cases have been reported worldwide to have the combination of these two neurological diseases, and none of them from Saudi Arabia.We are presenting a young lady who was diagnosed to have Multiple Sclerosis, Relapsing remitting form as she is fitting the clinical and the radiological criteria, and by the age of 29 years, she was thoroughly investigated for multiple café au lait spot lesions in the trunk and neurofibromas and history of childhood seizures. Case Presentation:29-year-old lady who was diagnosed to have Relapsing- Remitting Multiple Sclerosis (RRMS) 7 years ago as she is fulfilling the clinical and radiological criteria of Multiple sclerosis and maintained on Interferon beta 1a 44 mcg subcutaneous every other day then shifted to Fingolimod. Upon encountering her in the clinic, there were multiple café au lait spot lesions in the trunk and neurofibromas. Genetic testing showed pathogenic nonsense variant c.574C>T p.(Arg192*) in exon 5 of the NF1 gene. Conclusion:Relapsing remitting form of multiple sclerosis (RRMS) can be associated with Neurofibromatosis type 1(NF1), not only progressive form and NF1 can be related to spontaneous mutation in 50% of cases (no family history).