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).
Online Mendelian Inheritance in Man
Summarizes the current understanding of Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy (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.