Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1 -Related Fanconi Anemia.

IF 1.1 4区医学 Q4 CLINICAL NEUROLOGY

Neurologist Pub Date : 2023-09-01 DOI:10.1097/NRL.0000000000000511

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.

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BRIP1相关Fanconi贫血引起的复发性中枢神经系统肿瘤性病变。

引言：范科尼贫血（FA）是一种遗传性疾病，与影响DNA修复蛋白的基因突变有关。超过20个参与FA/BBRCA途径的基因与FA有关，包括BRIP1。肿瘤性脑损伤在FA中是罕见的。病例报告：我们描述了一名患有FA的患者，在头部计算机断层扫描上，复发性肿瘤性脑病变之前伴有钙化。活组织检查显示白质胶质增生伴严重血管病变。全基因组测序证实了BRIP1纯合子变体，最终诊断为BRIP1相关中枢神经系统血管病引起的复发性脑肿胀病变。本例免疫抑制治疗无效。结论：从机制上讲，BRIP1突变在中枢神经系统炎症和血管病变中的具体作用尚不清楚。然而，由于免疫系统成分的功能可能丧失或获得，免疫缺陷疾病可导致自身免疫和/或免疫失调。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurologist 医学-临床神经学

CiteScore

1.90

自引率

0.00%

发文量

151

审稿时长

2 months

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.