Relapsing–remitting clinical course expands the phenotype of Aicardi–Goutières syndrome

Jeffrey Lambe, Olwen C. Murphy, Weiyi Mu, Krista Sondergaard Schatz, Kristin W. Barañano, Arun Venkatesan

Research output: Contribution to journalArticle


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 languageEnglish (US)
JournalAnnals of Clinical and Translational Neurology
StateAccepted/In press - Jan 1 2020


ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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