Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome

Am J Med Genet A. 2004 Sep 1;129A(3):303-7. doi: 10.1002/ajmg.a.30250.

Abstract

We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Atrophy
  • Brain Stem / diagnostic imaging
  • Brain Stem / pathology*
  • Fatal Outcome
  • Female
  • Glaucoma / pathology*
  • Humans
  • Infant
  • Male
  • Neurodegenerative Diseases / pathology*
  • Tomography, X-Ray Computed