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Article

Adar-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis.

BMJ case reports - 13 Mar 2023

van Toorn Ronald, van Niekerk Magriet, Moosa Shahida, Goussard Pierre, Solomons Regan

Abstract excerpt

Aicardi-Goutières syndrome (AGS) refers to a group of genetic diseases characterised by severe inflammatory encephalopathy that usually present within the first year of life, resulting in progressive loss of cognition, spasticity, dystonia and motor disability. Pathogenic variants in the adenosine deaminase acting on RNA (Adar) enzyme have been linked to AGS type 6 (AGS6, Online Mendelian Inheritance in Man...

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Identifiers

PMID: 36914176
DOI: 10.1136/bcr-2022-252436
PMCID: PMC10016292

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