PEHO SYNDROME (PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA,AND OPTIC ATROPHY) - NEURORADIOLOGIC FINDINGS

PURPOSE: To investigate the radiologic characteristics of the clinical progressive encephalopathy with edema, hypsarrhythmia, and optic atro phy (PEHO) symptom complex. This complex is nonspecific, but within th is syndrome, a subgroup with a defined neuropathologic phenotype and a pparently autosomal recessive inheritance exists. METHODS: Brain CT or MR studies were performed on 21 patients with the clinical PEHO syndr ome. Their previous neuroradiologic studies were re-evaluated. RESULTS : Twelve patients (group A) showed uniform changes with early progress ive brain atrophy accentuated infratentorially, and abnormal myelinati on. The gyral pattern was normal. Brain atrophy of nine patients (grou p B) differed by being less progressive, supra-rather than infratentor ial, and often combined with abnormal gyral formation. CONCLUSIONS: Po stmortem studies permitted correlation of radiographic and morphologic findings in three cases. Two autopsied group A patients were compatib le with the true PEHO syndrome, while one group B patient was incompat ible. Group A seems to correspond to the core group of the PEHO syndro me. During a patient's life, a suggestive diagnosis of the true PEHO s yndrome is thus feasible, although neuropathologic studies are needed for a conclusive diagnosis.