Nabeela Nathoo, Ralitza H Gavrilova, Jorge A Trejo-Lopez, Patrick W McGarrah, Ronald S Go, Abdulradha Alqallaf, W Oliver Tobin
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引用次数: 0
Abstract
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.
期刊介绍：
The Neurologist publishes articles on topics of current interest to physicians treating patients with neurological diseases. The core of the journal is review articles focusing on clinically relevant issues. The journal also publishes case reports or case series which review the literature and put observations in perspective, as well as letters to the editor. Special features include the popular "10 Most Commonly Asked Questions" and the "Patient and Family Fact Sheet," a handy tear-out page that can be copied to hand out to patients and their caregivers.
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