PEHO or PEHO-like syndrome?
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Updated: Nov 5, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
1Paediatric Research Unit, Guy's Hospital, London, UK.
Abstract:
PEHO syndrome is a rare progressive infantile encephalopathy, with variable age of onset of hypotonia, convulsions, mental retardation, oedema, and optic atrophy. Neuroimaging shows cerebellar and brainstem atrophy in most instances. A PEHO-like syndrome has been described in which those affected do not have the typical changes on neuroimaging. We report four new cases, two isolated cases and two sisters, who might be part of the PEHO-like syndrome.
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