Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

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

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

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

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]

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

• Poor feeding
• Drowsiness
• Abnormal movements

• 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)

• Visual loss
• Abnormal eye movements
• Optic atrophy also occur during infancy

• Edema
• Tapered fingers

• Infantile spasms
• Hypsarrhythmia
• Seizures
• Psychomotor development
• Intellectual deficit
• Hypotonia

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