title: Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?
abstract: Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO) syndrome is a rare, apparently autosomal recessive condition in which characteristic dysmorphic features are associated with subcutaneous edema, visual deficit, early arrest of psychomotor development, seizures, and cerebellar atrophy. A condition similar to PEHO syndrome, but without the neuroradiologic or ophthalmologic signs, is known as PEHO-like syndrome. We present the case of a child with PEHO-like syndrome and underline the need for a careful follow-up of these patients to identify signs and symptoms that can have a later onset, such as optic atrophy.
authors.affiliation: Department of Pediatric Neurology, Istituto Neurologico C. Besta, Milan, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: D'Arrigo
authors.forename: Bruzzone Maria
authors.initials: BM
authors.lastname: Grazia
authors.forename: Francesca
authors.initials: F
authors.lastname: Faravelli
authors.forename: Daria
authors.initials: D
authors.lastname: Riva
authors.forename: Chiara
authors.initials: C
authors.lastname: Pantaleoni
mesh_terms: D001929:Brain Edema / Q000175:diagnosis*; D003937:Diagnosis, Differential; D018450:Disease Progression; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009896:Optic Atrophy / Q000175:diagnosis*; D013036:Spasms, Infantile / Q000175:diagnosis*; D013577:Syndrome