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

Autor:	Jeffrey Lambe, Olwen C. Murphy, Weiyi Mu, Krista Sondergaard Schatz, Kristin W. Barañano, Arun Venkatesan
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Zdroj:	Annals of Clinical and Translational Neurology, Vol 7, Iss 2, Pp 254-258 (2020)
Druh dokumentu:	article
ISSN:	2328-9503
DOI:	10.1002/acn3.50979
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/0f6077068eaa472da16d01bbe9faa05b Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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