Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and Keywords: Infantile cerebello optic atrophy ; PEHO syndrome [1]

Overview

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.[2]

Epidemiology

The incidence in Finland has been estimated at 1 in 78 000, but a few patients have been described from other countries including (The Netherlands, Spain France).[3]

Diagnosis

Symptoms

Onset occurs during the first few weeks or months of life with

  • Poor feeding
  • Drowsiness
  • Abnormal movements

Physical Examination

Head

  • Microcephaly
  • Facial dysmorphism (including a 'Pear-shaped' face with a narrow forehead and full cheeks, receding chin, epicanthic folds, an open mouth with a curved upper lip, protruding ear lobes and a short nose with anteverted nostrils)

Eyes

Extremeties

Neurologic

References


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