一名患有DADA2突变的42岁患者的脑动脉瘤和复发性短暂性脑缺血发作：病例报告
Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation: A Case Report.
作者信息
Agajany Netta, Horev Liran, Agajany Netanel, Kenan Gilad
机构信息
From the Departments of Neurology (Netta Agajany, G.K.) and Dermatology (L.H.) and Pediatrics (Netanel Agajany), Shamir Medical Center.
出版信息
Neurol Genet. 2023 Aug 28;9(5):e200097. doi: 10.1212/NXG.0000000000200097. eCollection 2023 Oct.
OBJECTIVES
Deficiency of adenosine deaminase 2 (DADA2) is a rare, recessively inherited autoinflammatory disease with a wide clinical spectrum of manifestations, including strokes and vasculitis.
METHODS
We report a case of a patient with DADA2 who presented with neurologic manifestations.
RESULTS
A 42-year-old woman with a known diagnosis of polyarteritis nodosa experienced several episodes of TIAs. Neuroimaging revealed 2 aneurysms in unusual locations. Her young age, ethnic origin, absent of cardiovascular risk factors, and skin involvement raised the suspicion of DADA2. Genetic testing confirmed the diagnosis, and a directed treatment with anti-TNF was initiated.
DISCUSSION
DADA2, although thought to be rare, needs to be borne in mind when evaluating patients with a combination of neurologic and systemic symptoms, as early diagnosis and treatment are imperative in preventing permanent disability.
目的
腺苷脱氨酶2（DADA2）缺乏症是一种罕见的常染色体隐性遗传性自身炎症性疾病，临床表现谱广泛，包括中风和血管炎。
方法
我们报告1例表现为神经系统症状的DADA2患者。
结果
一名已知诊断为结节性多动脉炎的42岁女性经历了数次短暂性脑缺血发作。神经影像学检查发现2个位于不寻常位置的动脉瘤。她年轻、特定种族出身、无心血管危险因素以及皮肤受累情况引发了对DADA2的怀疑。基因检测确诊了该疾病，并开始了抗TNF定向治疗。
讨论
DADA2虽然被认为罕见，但在评估伴有神经系统和全身症状的患者时需要考虑到，因为早期诊断和治疗对于预防永久性残疾至关重要。
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