Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency

Neurology. 2021 Jul 6;97(1):e109-e110. doi: 10.1212/WNL.0000000000011719. Epub 2021 Feb 16.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging*
  • Brain Diseases / complications
  • Brain Diseases / diagnostic imaging
  • Cerebellum / diagnostic imaging
  • Diffusion Magnetic Resonance Imaging
  • Epilepsy / complications
  • Epilepsy / diagnostic imaging
  • Female
  • Humans
  • Infant
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / diagnostic imaging*
  • Microcephaly / diagnostic imaging
  • Myelin Sheath / pathology*
  • Pyrophosphatases / deficiency*

Substances

  • Pyrophosphatases
  • ITPA protein, human

Supplementary concepts

  • Inosine Triphosphatase Deficiency