Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

Abstract

Objective: To perform an updated characterization of the neuroradiologic features of AicardiGoutières syndrome (AGS). Methods:The neuroradiologic data of 121 subjects with AGS were collected. The CT and MRI data were analyzed with a systematic approach. Moreover, we evaluated if an association exists between the neuroradiologic findings, clinical features, and genotype.Results: Brain calcifications were present in 110 subjects (90.9%). Severe calcification was associated with TREX1 mutations and early age at onset. Cerebral atrophy was documented in 111 subjects (91.8%). Leukoencephalopathy was present in 120 children (99.2%), with 3 main patterns: frontotemporal, diffuse, and periventricular. White matter rarefaction was found in 54 subjects (50.0%), strongly associated with mutations in TREX1 and an early age at onset. Other novel radiologic features were identified: deep white matter cysts, associated with TREX1 mutations, and delayed myelination, associated with RNASEH2B mutations and early age at onset. Conclusions:We demonstrate that the AGS neuroradiologic phenotype is expanding by adding new patterns and findings to the classic criteria. The heterogeneity of neuroradiologic patterns is partly explained by the timing of the disease onset and reflects the complexity of the pathogenic mechanisms. Neurology ® 2016;86:28-35 GLOSSARY AGS 5 Aicardi-Goutières syndrome; GRE 5 gradient-echo imaging; SWI 5 susceptibility-weighted imaging.

Cockayne syndrome: Clinical features, model systems and pathways

“…Similar calcification is seen in Aicardi-Goutieres syndrome (Livingston et al, 2014, 2013; Mizuno et al, 2011; Piana et al, 2016; Ramantani et al, 2010), which has vasculopathy. Calcification is seen in the leptomeningeal vessels (Rapin et al, 2006; Weidenheim et al, 2009), which raises the chicken-and-egg conundrum – did calcification lead to vascular damage, or was vascular damage and resulting hypoxia the reason for the calcification.…”

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

“…9 BSN was diagnosed in the context of an acute or subacute onset of a dystonic/rigid motor disorder associated with magnetic resonance imaging features of bilateral striatal signal change with or without swelling. Spastic paraparesis/tetraparesis and spastic dystonia were diagnosed according to clinical signs, in the presence of either normal neuroimaging or mild nonspecific changes sometimes including calcification of the basal ganglia.…”

Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome‐2?

“…Commonly associated symptoms include seizures, glaucoma, and chilblain lesions . Most patients with AGS have abnormalities on imaging, including white matter abnormalities and brain calcifications primarily affecting the basal ganglia …”