Le Floch Korentin, Barillon Jeanne, Bonanno Maria Chiara, Héron Bénédicte, Mignot Cyril, Renaldo Florence, Chalard François
Hôpital Armand-Trousseau, 26 Avenue du Dr. Arnold Netter, 75012, Paris, France.
Pediatr Radiol. 2025 Jun;55(7):1537-1541. doi: 10.1007/s00247-025-06268-5. Epub 2025 May 29.
Aicardi-Goutières syndrome is a rare congenital multisystem disease of genetic origin, and its manifestations resemble those of an intrauterine infection; therefore, TORCH infection (toxoplasmosis, others, rubella, cytomegalovirus, herpes) is its main differential diagnosis. The classic brain imaging features-leukoencephalopathy, striatal necrosis, intracranial calcifications and atrophy-are well known. Recently, another radiological pattern characterized by large-vessel stenosis, including moyamoya syndrome, and ischaemic lesions, has been reported, mainly with SAMHD1 mutation.
We report a case of a moyamoya syndrome from this unusual cause, in a young child.
The radiologist must be aware of such arterial anomalies, which are poorly reported in the radiological literature, and search for them when performing brain magnetic resonance for Aicardi-Goutières syndrome, even in the absence of a genetic diagnosis. Moreover, in an infant or young child with moyamoya syndrome, Aicardi-Goutières syndrome should be included in the differential diagnoses.
艾卡迪-古铁雷斯综合征是一种罕见的遗传性先天性多系统疾病，其表现类似于宫内感染；因此，TORCH感染（弓形虫病、其他、风疹、巨细胞病毒、疱疹）是其主要鉴别诊断。经典的脑成像特征——白质脑病、纹状体坏死、颅内钙化和萎缩——是众所周知的。最近，另一种以包括烟雾病综合征在内的大血管狭窄和缺血性病变为特征的放射学模式已被报道，主要与SAMHD1突变有关。
我们报告了一例由这种不寻常原因导致烟雾病综合征的幼儿病例。
放射科医生必须了解这种在放射学文献中报道较少的动脉异常情况，并且在对艾卡迪-古铁雷斯综合征进行脑磁共振检查时，即使没有基因诊断，也应寻找这些异常情况。此外，对于患有烟雾病综合征的婴儿或幼儿，鉴别诊断应包括艾卡迪-古铁雷斯综合征。
