Elbracht Miriam, Mull Michael, Wagner Norbert, Kuhl Christiane, Abicht Angela, Kurth Ingo, Tenbrock Klaus, Häusler Martin
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Department of Diagnostic and Interventional Neuroradiology, RWTH University Hospital Aachen, Aachen Germany.
Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26.
Deficiency of adenosine deaminase 2 (ADA2) due to homozygous or compound heterozygous mutations in the cat eye syndrome chromosome region, candidate 1 () gene causes an autoimmune phenotype with systemic vasculitis affecting the skin, inner organs, and the central nervous system. Typically, stroke has been reported to follow systemic inflammatory disease and predominantly affects posterior and central brain areas. Here, we describe one of the rare patients in whom acute mesencephalic stroke preceded systemic inflammation and presented as initial clinical symptom. Symptoms typical for ADA2 deficiency such as fever, livedo racemosa, abdominal colics, arthralgias, and Raynaud phenomenon were observed later. Moreover, angiography of cerebral arteries did not reveal typical vasculitic findings supporting the hypothesis that alternative mechanism of vascular occlusion might have caused the stroke. ADA2 deficiency should be considered in patients with childhood stroke despite the absence of systemic inflammation and cerebral vasculitis.
由于猫眼综合征染色体区域候选基因1（CECR1）的纯合或复合杂合突变导致的腺苷脱氨酶2（ADA2）缺乏会引起自身免疫表型，伴有影响皮肤、内脏器官和中枢神经系统的系统性血管炎。通常，据报道中风继发于系统性炎症疾病，且主要影响大脑后部和中部区域。在此，我们描述了一名罕见患者，其急性中脑中风先于系统性炎症出现，并作为初始临床症状表现。典型的ADA2缺乏症状，如发热、网状青斑、腹部绞痛、关节痛和雷诺现象，随后才被观察到。此外，脑动脉血管造影未显示典型的血管炎表现，这支持了血管闭塞的替代机制可能导致中风的假说。尽管没有系统性炎症和脑血管炎，儿童中风患者仍应考虑ADA2缺乏的可能性。
