Work

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

Year: 2025

Type: article

Abstract: 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 well known. Recently, another radiological pattern characterized by large-vessel stenosis, including moyamoya syndrome, and ischaemic lesions, has been reported, mainly with SAMHD1 mutation. WHAT WAS UNIQUE: We report a case of a moyamoya syndrome from this unusual cause, in a young child. RAMIFICATION OF THIS 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.

Source: Pediatric Radiology

DOI: 10.1007/s00247-025-06268-5