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PEHO syndrome
Background
PEHO syndrome is a rare neurodegenerative condition which usually begins within the first few weeks of life. The condition takes its name from the following features: progressive encephalopathy with (O)edema, hypsarrhythmia and optic atrophy (PEHO).
Progressive encephalopathy is the term used to describe degenerative changes which take place in brain tissue. In PEHO syndrome, these changes characteristically occur in the cerebellum. The cerebellum is important for maintaining posture, coordinating head and eye movements and fine-tuning of muscles.