Teaching Neuro Images: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9)

Neurology. 2017 Oct 3;89(14):e172-e173. doi: 10.1212/WNL.0000000000004542.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • AMP Deaminase / genetics
  • Brain / diagnostic imaging*
  • Cerebellar Diseases / diagnostic imaging*
  • Cerebellar Diseases / genetics
  • Child, Preschool
  • Female
  • Humans
  • Magnetic Resonance Imaging

Substances

  • AMP Deaminase
  • AMPD2 protein, human

Supplementary concepts

  • Pontocerebellar Hypoplasia