Neuroradiologic patterns and novel imaging findings in Aicardi-Goutieres syndrome.

ABSTRACT:

Objective

To perform an updated characterization of the neuroradiologic features of Aicardi-Goutières 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 associa

SUBMITTER: La Piana R 

PROVIDER: S-EPMC4731289 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature