Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in succinic semialdehyde dehydrogenase deficiency

Neurology. 2020 Oct 20;95(16):e2316-e2317. doi: 10.1212/WNL.0000000000010367. Epub 2020 Jul 17.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnostic imaging*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / pathology*
  • Child, Preschool
  • Developmental Disabilities / diagnostic imaging*
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology*
  • Globus Pallidus / diagnostic imaging*
  • Globus Pallidus / pathology*
  • Humans
  • Male
  • Neurology / education
  • Succinate-Semialdehyde Dehydrogenase / deficiency*
  • Succinate-Semialdehyde Dehydrogenase / genetics

Substances

  • ALDH5A1 protein, human
  • Succinate-Semialdehyde Dehydrogenase

Supplementary concepts

  • succinic semialdehyde dehydrogenase deficiency