Citations 13
Isolated Meningitis Is a Unique Clinical Phenotype of Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease (P9-14.003)
Nathoo, Nabeela , Tillema, Jan‐Mendelt , Tajfirouz, Deena , Toledano, Michel , Nathoo, Nabeela , Aboseif, Albert , Chen, John J. , Cacciaguerra, Laura , Vorasoot, Nisa , Banks, Samantha A. , Thakolwiboon, Smathorn , Pittock, Sean J. , Flanagan, Eoin P.
Neurology | April 9, 2024 | Volume: 102 | Issue: 7_supplement_1 | Pages: No page available
Atypical Bilateral Idiopathic Inflammatory Cavernous Sinus Syndrome Responsive to Cyclophosphamide
Nathoo, Nabeela , Chodnicki, Kevin D. , Krecke, Karl N. , Nguyen, Aivi T. , Toledano, Michel , Kantarci, Orhun H. , Nguyen, Aivi T , Nathoo, Nabeela , Gompel, Jamie J. Van
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques | March 5, 2024 | Volume: 52 | Issue: 1 | Pages: 159-161
Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1-Related Fanconi Anemia
Nathoo, Nabeela , Gavrilova, Ralitza H. , Trejo‐Lopez, Jorge , Alqallaf, Abdulradha, Nathoo, Nabeela , McGarrah, Patrick W. , Go, Ronald S. , Tobin, W. Oliver
The Neurologist | August 15, 2023 | Volume: 28 | Issue: 5 | Pages: 332-334
Introduction: Fanconi anemia (FA) is an inherited condition associated with genetic mutations that affect DNA repair proteins. More than 20 genes involved in the FA/BRCA pathway have been implicated in FA, including BRIP1. Tumefactive brain lesions are rare in FA. Case Report: We describe a patient with FA and recurrent tumefactive brain lesions preceded by calcifications on head computed tomography. A biopsy revealed white-matter gliosis with severe vasculopathy. Whole-genome sequencing demonstrated a BRIP1 homozygous variant with a final diagnosis of recurrent tumefactive brain lesions due to BRIP1-associated CNS vasculopathy. Immunosuppressive treatment was ineffective in the present case. Conclusions: Mechanistically, the specific role of BRIP1 mutation in CNS inflammation and vasculopathy is unclear. However, immunodeficiency disorders can lead to autoimmunity and/or immune dysregulation due to the possible loss or gain of function of components of the immune system.