Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?
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.
D'Arrigo
Stefano
S
Department of Pediatric Neurology, Istituto Neurologico C. Besta, Milan, Italy.
Grazia
Bruzzone Maria
BM
Faravelli
Francesca
F
Riva
Daria
D
Pantaleoni
Chiara
C
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