Abstract
Aicardi–Goutières syndrome (AGS) is a rare and likely underdiagnosed genetic leukoencephalopathy, typically presenting in infancy with encephalopathy and characteristic neuroimaging features, with residual static neurological deficits. We describe a patient who, following an initial presentation at the age of 12 months in keeping with AGS, exhibited a highly atypical relapsing course of neurological symptoms in adulthood with essentially normal neuroimaging. Whole-exome sequencing confirmed a pathogenic RNASEH2B gene variant consistent with AGS. This case highlights the expanding phenotypes associated with AGS and the potential role of whole-exome sequencing in facilitating an increase in the rate of diagnosis.
Original language | English (US) |
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Pages (from-to) | 254-258 |
Number of pages | 5 |
Journal | Annals of Clinical and Translational Neurology |
Volume | 7 |
Issue number | 2 |
DOIs | |
State | Published - Feb 1 2020 |
ASJC Scopus subject areas
- Neuroscience(all)
- Clinical Neurology