Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature

Neuroradiol J. 2023 Dec;36(6):740-745. doi: 10.1177/19714009231154677. Epub 2023 Feb 1.


Aicardi-Goutières syndrome (AGS) is an autosomal recessive disease that mimics congenital viral infection and mainly affects the brain, immune system, and skin. The dominant clinical symptom is the subacute onset of severe encephalopathy, which manifests as irritability, loss of ability, slowing of head growth, and poor nutrition. Arteriopathy in AGS is an uncommon manifestation usually associated with mutations in the SAMHD1 gene. We present a rare case of a 3-year-old male due to failure to thrive, global developmental delay, microcephaly, poor vision, upper and lower limbs spasticity, and gastroesophageal reflux disease (GERD), who harbored early stenotic lesions of the large and medium intracranial arteries with ischemic sequelae in the early postnatal life. Performed genetic testing confirmed homozygous gene mutation, SAMHD1 associated with AGS type 5. By reviewing the available literature, we were able to find only one patient whose arterial lesions were diagnosed after 6 months.

Keywords: Aicardi–Goutières syndrome; SAMHD1; cerebral arterial stenosis; focal cerebral arteriopathy; intracerebral large artery disease.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Autoimmune Diseases of the Nervous System* / diagnosis
  • Autoimmune Diseases of the Nervous System* / genetics
  • Autoimmune Diseases of the Nervous System* / pathology
  • Child, Preschool
  • Humans
  • Male
  • Mutation / genetics
  • Nervous System Malformations* / diagnostic imaging
  • Nervous System Malformations* / genetics
  • SAM Domain and HD Domain-Containing Protein 1 / genetics


  • SAM Domain and HD Domain-Containing Protein 1

Supplementary concepts

  • Aicardi-Goutieres syndrome 5
  • Aicardi-Goutieres syndrome