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

The radiologist must be aware of such arterial anomalies, which are poorly reported in the radiological literature, and search for them when performing brain magnetic resonance for Aicardi-Goutières syndrome, even in the absence of a genetic diagnosis. Moreover, in an infant or young child with moyamoya syndrome, Aicardi-Goutières syndrome should be included in the differential diagnoses.

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Publication Details

Journal
Pediatric Radiology
Published
2025-05-29
DOI
https://doi.org/10.1007/s00247-025-06268-5
Primary Topic
Otitis Media and Relapsing Polychondritis
Type
article
Field-Weighted Citation Impact
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article

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

Maria Chiara Bonanno, François Chalard, Florence Renaldo, Cyril Mignot et al.
Pediatric Radiology
Otitis Media and Relapsing Polychondritis
article

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

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

Abstract

The radiologist must be aware of such arterial anomalies, which are poorly reported in the radiological literature, and search for them when performing brain magnetic resonance for Aicardi-Goutières syndrome, even in the absence of a genetic diagnosis. Moreover, in an infant or young child with moyamoya syndrome, Aicardi-Goutières syndrome should be included in the differential diagnoses.

Pediatric RadiologyVol. 55(7)
Sorbonne Université (FR), Hôpital Armand-Trousseau (FR)
Openalex Percentile: Top 81%
Otitis Media and Relapsing Polychondritis
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