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

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.

Keywords: SAMHD1; Aicardi-Goutières syndrome; Children; Interferonopathy; Magnetic resonance imaging; Moyamoya syndrome.

Fig. 1

Brain magnetic resonance imaging in a 15-month-old girl with Aicardi-Goutières syndrome. a Axial T₁-weighted image without contrast showing delayed myelination. b Axial T₂-weighted image, at the same level, showing hypersignals in the periventricular white matter

Fig. 2

Computed tomography of the brain in a 3-year-old girl with Aicardi-Goutières syndrome. a Symmetrical calcifications in the periventricular frontal white matter and lenticulate nuclei. b Mild hypoplasia of the right carotid canal in the petrous bone (arrow)

Fig. 3

Magnetic resonance angiography (3D time-of-flight) of the brain in a 4-year-old-girl with Aicardi-Goutières syndrome. a Long stenosis of the right posterior cerebral artery (arrowhead) and mild hypoplasia of the right internal carotid artery (arrow). b, c Severe stenosis of the left middle cerebral artery origin with a dilated collateral arterial network (long arrows)