title: A patient with hydranencephaly and PEHO-like dysmorphic features.
abstract: Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome) is a rare recessive autosomal neurodegenerative condition essentially described in Finland. The term PEHO-like syndrome has been proposed for patients who share clinical features of PEHO syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria. We describe a patient presenting with hypoxic-ischaemic encephalopathy and PEHO-like syndrome features.
authors.affiliation: Service de Génétique Médicale, CHU Pellegrin-Enfants, Place Amélie Raba-Léon, 33076 cedex, Bordeaux, France. cyril.goizet@chu-bordeaux.fr <cyril.goizet@chu-bordeaux.fr>
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
authors.forename: Caroline
authors.initials: C
authors.lastname: Espil-Taris
authors.forename: Marie
authors.initials: M
authors.lastname: Husson
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Chateil
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Pedespan
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004487:Edema / Q000473:pathology; D005145:Face / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D020925:Hypoxia-Ischemia, Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D007231:Infant, Newborn; D008297:Male; D009896:Optic Atrophy / Q000473:pathology; D013036:Spasms, Infantile / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed