This article includes discussion of PEHO, infantile cerebello-optic atrophy, and progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome was first described in Finland, but several patients have been reported from other European and non-European countries. The main features of this autosomal recessive disorder are infantile spasms, severe hypotonia with absence of developmental milestones, blindness, subcutaneous edema of hands and feet, and characteristic dysmorphic features. Data suggest the presence of one major locus in the Finnish families with this disorder. In this article, the author describes the main clinical diagnostic findings, emphasizing the early progressive brain atrophy, which starts in the cerebellum and brainstem.
• PEHO is a neurodegenerative disorder with early infantile onset and autosomal recessive inheritance.
• Severe hypotonia, blindness, and edema of face and limbs are typical signs.
• Early brain atrophy, starting in the cerebellum, is the most distinguishing diagnostic feature.
Historical note and terminology
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) is a progressive infantile brain disorder, first identified by Salonen and colleagues in 14 patients from 11 Finnish families (Salonen et al 1991). The combination of profound mental retardation with epilepsy, absence of developmental milestones, severe hypotonia with hyperreflexia, transient or persistent subcutaneous edema and blindness, together with characteristic dysmorphic features allowed recognition of these patients. It was named according to the main clinical findings (Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy), and diagnostic clinical criteria were described by Somer (Somer 1993). It is one of the rare Mendelian syndromes with infantile spasms. Haltia and Somer found uniform neuropathological changes with severe neuronal loss in the inner granular layer of the cerebellum in postmortem studies of 8 patients (Haltia and Somer 1993). Neuropathologically, the disorder was referred to as "infantile cerebello-optic atrophy."
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