Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome

Neuropediatrics. 2002 Apr;33(2):100-4. doi: 10.1055/s-2002-32371.

Abstract

PEHO syndrome (progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy) is a neurodegenerative disorder first characterized in Finnish patients. Subsequent reports have occasionally identified cases of PEHO occurring in some other countries. We describe two Dutch children who represent the first reported cases with PEHO syndrome from western Europe. Both of these children showed typical characteristics of the syndrome, including generalized hypotonia and edema of their faces and extremities, profound psychomotor retardation, progressive cerebellar atrophy, and severe epilepsy which initially started as infantile spasms. Our experience has shown that distinguishing cases with true PEHO from those with other, clinically similar disorders requires a firm demonstration of both the presence and the progress of typical neuroradiological findings. Our present cases suggest that 1) PEHO syndrome is not limited to Finnish heritage, and that 2) many more patients with PEHO could be identified with increased knowledge of the syndrome.

Publication types

  • Case Reports

MeSH terms

  • Brain Damage, Chronic / complications*
  • Brain Damage, Chronic / diagnosis*
  • Child, Preschool
  • Disease Progression
  • Edema / complications*
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Optic Atrophy / complications*
  • Peripheral Vascular Diseases / complications*
  • Spasms, Infantile / complications*
  • Syndrome