title: PEHO or PEHO-like syndrome?
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.
authors.affiliation: Paediatric Research Unit, Guy's Hospital, London, UK.
authors.forename: L S
authors.initials: LS
authors.lastname: Chitty
authors.forename: S
authors.initials: S
authors.lastname: Robb
authors.forename: C
authors.initials: C
authors.lastname: Berry
authors.forename: D
authors.initials: D
authors.lastname: Silver
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification* / Q000175:diagnosis; D001145:Arrhythmias, Cardiac / Q000145:classification* / Q000175:diagnosis; D001927:Brain Diseases / Q000145:classification* / Q000175:diagnosis; D001929:Brain Edema / Q000145:classification* / Q000175:diagnosis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009896:Optic Atrophy / Q000145:classification* / Q000175:diagnosis; D013577:Syndrome