title: [PEHO syndrome (progressive encephalopathy, edema, hypsarrhythmia. optic atrophy)].
abstract: The authors report the case of a now 2-year-old boy with PEHO syndrome. The syndrome is rare and it has not been published yet in Hungary. The syndrome was named after the first letters of its main characteristic signs: progressive encephalopathy, edema, hypsarrhythmia and optic atrophy. The aetiology of the syndrome is still unknown. Autosomal recessive inheritance is likely. The prognosis is poor. Intractable infantile spasms and the arrest of the psychomotoric and mental development can be expected.
authors.affiliation: Pécsi Orvostudományi Egyetem, Gyermekgyógyászati Klinika, Pécs.
authors.forename: K
authors.initials: K
authors.lastname: Hollódy
authors.forename: K
authors.initials: K
authors.lastname: Kollár
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001925:Brain Damage, Chronic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D004487:Edema / Q000150:complications; D004569:Electroencephalography; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009896:Optic Atrophy / Q000150:complications / Q000235:genetics*; D011247:Pregnancy; D012640:Seizures / Q000209:etiology; D013036:Spasms, Infantile / Q000150:complications / Q000235:genetics*; D013577:Syndrome
vernacular_title: PEHO syndroma (progresszív encephalopathia, oedema, hypsarrhythmia, opticus atrophia).