A patient with hydranencephaly and PEHO-like dysmorphic features

Ann Genet. 2003 Jan-Mar;46(1):25-8. doi: 10.1016/s0003-3995(03)00003-0.

Abstract

Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome) is a rare recessive autosomal neurodegenerative condition essentially described in Finland. The term PEHO-like syndrome has been proposed for patients who share clinical features of PEHO syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria. We describe a patient presenting with hypoxic-ischaemic encephalopathy and PEHO-like syndrome features.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Child, Preschool
  • Edema / pathology
  • Face / abnormalities
  • Hand Deformities, Congenital / diagnostic imaging
  • Humans
  • Hypoxia-Ischemia, Brain / diagnostic imaging*
  • Hypoxia-Ischemia, Brain / pathology*
  • Infant, Newborn
  • Male
  • Optic Atrophy / pathology
  • Spasms, Infantile / pathology
  • Syndrome
  • Tomography, X-Ray Computed