Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2] Synonyms and keywords: Infantile cerebello optic atrophy ; PEHO syndrome

Overview

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

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).

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

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

Extremeties

• Edema
• Tapered fingers

Neurologic

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