TY - JOUR
T1 - Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1 -Related Fanconi Anemia
AU - Nathoo, Nabeela
AU - Gavrilova, Ralitza H.
AU - Trejo-Lopez, Jorge A.
AU - McGarrah, Patrick W.
AU - Go, Ronald S.
AU - Alqallaf, Abdulradha
AU - Tobin, W. Oliver
N1 - Publisher Copyright:
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2023/9/1
Y1 - 2023/9/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85174641724&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85174641724&partnerID=8YFLogxK
U2 - 10.1097/NRL.0000000000000511
DO - 10.1097/NRL.0000000000000511
M3 - Article
C2 - 37582649
AN - SCOPUS:85174641724
SN - 1074-7931
VL - 28
SP - 332
EP - 334
JO - The neurologist
JF - The neurologist
IS - 5
ER -