PEHO syndrome (Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy) is an autosomal recessive disorder leading to profound psychomotor retardation. The etiology and pathogenesis of the syndrome are unknown. The main clinical findings are severe hypotonia, brisk reflexes, convulsions, profound psychomotor retardation, subcutaneous edema, and absence or early loss of visual fixation. The nature of the syndrome is progressive and most patients die before the age of 15 years.
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- Cranial Magnetic Resonance Imaging Mistakenly Suggests Prenatal Ischaemia in PEHO-Like Syndrome Longman, Tolmie, McWilliam and MacLennan describe two sisters with a PEHO-like syndrome, for the eldest of whom cranial magnetic resonance imaging revealed periventricular white matter changes, whilst cerebellar hypoplasia, characteristic of true PEHO syndrome, was absent.
- Infantile Cerebello-Optic Atrophy Haltia and Somer describe eight cases of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (PEHO syndrome).
- PEHO syndrome Somer describes a number of Finnish cases.
- Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (PEHO syndrome) in Two Japanese Siblings Fujimoto et al report on two Japanese siblings with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy), the first case report of PEHO syndrome outside Finland.
- Online Mendelian Inheritance in Man Summarizes the current understanding of Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome).