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Article

Moyamoya syndrome in a patient with Aicardi-Goutières syndrome associated with a SAMHD1 mutation: a case report.

Pediatric radiology - 1 Jun 2025

Le Floch Korentin, Barillon Jeanne, Bonanno Maria Chiara, Héron Bénédicte, Mignot Cyril, Renaldo Florence, Chalard François

Abstract excerpt

REASON TO REPORT: Aicardi-Goutières syndrome is a rare congenital multisystem disease of genetic origin, and its manifestations resemble those of an intrauterine infection; therefore, TORCH infection (toxoplasmosis, others, rubella, cytomegalovirus, herpes) is its main differential diagnosis. The classic brain imaging features-leukoencephalopathy, striatal necrosis, intracranial calcifications and atrophy-are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40442339
DOI: 10.1007/s00247-025-06268-5
PMCID: PMC12227365

Genes

SAMHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Moyamoya syndrome in a patient with Aicardi-Goutières syndrome associated with a SAMHD1 mutation: a case report.PMID 40442339Read ↗

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