Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome)

Epilepsia. 1993 Jul-Aug;34(4):727-31. doi: 10.1111/j.1528-1157.1993.tb00453.x.

Abstract

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome) is an apparently autosomal recessive disorder manifested by infantile spasms, severe hypotonia, and early arrest of psychomotor development. Subcutaneous edema in the limbs, typical facial features, and blindness with optic atrophy are also present. Neuropathologic and radiographic studies show progressive brain atrophy, which is accentuated infratentorially. We recorded 85 EEGs from 10 patients between the ages of 3 weeks and 12.7 years; follow-up ranged from 7 months to 12.1 years. The infantile spasms were preceded by other neurological symptoms in all patients. Seven of nine patients showed focal or generalized epileptiform activity or abnormal EEG background. All patients developed hypsarrhythmia, first recorded between 3 and 11 months of age, that was resistant to therapy with ACTH and antiepileptic drugs. After the hypsarrhythmia disappeared, five patients showed slow spike-wave activity generally seen in the Lennox-Gastaut syndrome, and three patients showed background EEG abnormality with generalized or diffuse paroxysmal activity. There were no specific EEG features that could help in the diagnosis of PEHO. The PEHO syndrome should be borne in mind in the diagnostic work-up of patients with infantile spasms, so that potentially harmful treatment can be avoided, and the parents can be counseled about the inheritability of the disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Blindness / diagnosis
  • Blindness / genetics
  • Brain Diseases / diagnosis*
  • Brain Diseases / genetics
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Edema / diagnosis*
  • Edema / genetics
  • Electroencephalography*
  • Epilepsy, Generalized / diagnosis
  • Epilepsy, Generalized / genetics
  • Female
  • Genetic Counseling
  • Humans
  • Infant
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics
  • Optic Atrophy / diagnosis*
  • Optic Atrophy / genetics
  • Spasms, Infantile / diagnosis*
  • Spasms, Infantile / genetics
  • Syndrome