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Reason to report <p>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.</p> What was unique <p>We report a case of a moyamoya syndrome from this unusual cause, in a young child.</p> Ramification of this report <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月29日

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

摘要

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.