Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

Pediatr Neurol. 1996 Nov;15(4):337-9. doi: 10.1016/s0887-8994(96)00161-0.

Abstract

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy syndrome is a recently described rare disorder of infantile regression, intractable seizures, and cerebellar atrophy that occurs almost exclusively in the Finnish population. We report the first North American child with this condition.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Brain Edema / genetics*
  • Cerebellum / pathology*
  • Child, Preschool
  • Electroencephalography
  • Evoked Potentials / physiology
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Neurologic Examination
  • Optic Atrophy / genetics*
  • Spasms, Infantile / genetics*
  • Syndrome