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