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Article

Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2020

Wu Chang-Chun, Peng Steven Shinn-Forng, Lee Wang-Tso

Abstract excerpt

We report a patient diagnosed with Aicardi-Goutières syndrome (AGS) with homozygous TREX1 gene mutation. Her magnetic resonance angiography (MRA) showed intracerebral large artery disease, which was rarely reported in the past in TREX1 AGS patients. Her younger sister also had homozygous TREX1 gene mutation and died of necrotizing enterocolitis. Intracerebral large artery involvement has been seen as a particular...

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PMID: 32524323
DOI: 10.1007/s10072-020-04516-0

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