title: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).
abstract: We describe 14 patients, from 11 families, who have a progressive encephalopathy with early onset. The clinical signs of the disease are severe hypotonia, convulsions with hypsarrhythmia, profound mental retardation, hyperreflexia, transient or persistent edema, and optic atrophy. These findings and the characteristic dysmorphic features allow recognition of these patients, although no basic metabolic defect has been found. Microcephaly and atrophy of the brain develop, especially in the cerebellar and brain stem areas. An autosomal recessive mode of inheritance is likely.
authors.affiliation: Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Finland.
authors.forename: R
authors.initials: R
authors.lastname: Salonen
authors.forename: M
authors.initials: M
authors.lastname: Somer
authors.forename: M
authors.initials: M
authors.lastname: Haltia
authors.forename: M
authors.initials: M
authors.lastname: Lorentz
authors.forename: R
authors.initials: R
authors.lastname: Norio
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004487:Edema / Q000175:diagnosis / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007968:Leukoencephalopathy, Progressive Multifocal / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics*; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012886:Skull / Q000002:abnormalities; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome