Article
Relapsing-remitting clinical course expands the phenotype of Aicardi-Goutières syndrome.
Annals of clinical and translational neurology - 1 Feb 2020
Lambe Jeffrey, Murphy Olwen C, Mu Weiyi, Sondergaard Schatz Krista, Barañano Kristin W, Venkatesan Arun
Abstract excerpt
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...
Topics
- Adult
- Autoimmune Diseases of the Nervous System
- Female
- Humans
- Magnetic Resonance Imaging
- Nervous System Malformations
- Phenotype
- Recurrence
- Ribonuclease H
- Exome Sequencing