Giossi Alessia, Giliani Silvia Clara, Gamba Massimo, Toniati Paola, Magoni Mauro, Pezzini Alessandro
U.O. Neurologia, Istituti Ospitalieri, ASST Cremona, Cremona, Italy.
Angelo Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Eur J Neurol. 2023 Apr;30(4):1148-1151. doi: 10.1111/ene.15708. Epub 2023 Feb 7.
Only a small proportion of cerebral small vessel disease (cSVD), a frequent cause of stroke and cognitive or motor disability in adults, is attributable to monogenic conditions. The hereditary nature of a patient's cSVD may be masked by a mild or non-informative phenotype, as single-gene disorders have a variable mode of presentation, penetrance and disease severity.
An adult patient is here described with recurrent acute ischaemic strokes due to cSVD with no other phenotypic manifestation, in whom the pathogenic c.139G>A (p.G47R) missense variant in ADA2 (NM_001282225.2), consistent with the diagnosis of adenosine deaminase 2 deficiency syndrome, was detected by targeted next-generation sequencing.
Clinical suspicion of adenosine deaminase 2 deficiency syndrome may be overlooked in stroke patients in whom other specific disease features are lacking. This case enlarges the mode of presentation of the syndrome and highlights the diagnostic potential of next-generation sequencing of known cSVD genes in young adults with recurrent small subcortical infarcts presenting with a lacunar syndrome.
脑小血管病（cSVD）是成人中风以及认知或运动功能障碍的常见病因，其中只有一小部分可归因于单基因疾病。单基因疾病具有多种表现形式、外显率和疾病严重程度，因此患者cSVD的遗传性质可能会被轻微或无信息价值的表型所掩盖。
本文描述了一名成年患者，因cSVD反复发生急性缺血性中风，无其他表型表现，通过靶向二代测序检测到ADA2基因（NM_001282225.2）存在致病性c.139G>A（p.G47R）错义变异，符合腺苷脱氨酶2缺乏综合征的诊断。
在缺乏其他特定疾病特征的中风患者中，对腺苷脱氨酶2缺乏综合征的临床怀疑可能会被忽视。该病例扩大了该综合征的表现形式，并突出了对有腔隙综合征表现的复发性小皮质下梗死的年轻成年人进行已知cSVD基因二代测序的诊断潜力。
