A patient with hydranencephaly and PEHO-like dysmorphic features.
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.
Goizet
Cyril
C
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>
Espil-Taris
Caroline
C
Husson
Marie
M
Chateil
Jean-François
JF
Pedespan
Jean-Michel
JM
Lacombe
Didier
D
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