Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy syndrome is a recently described rare disorder of infantile regression, intractable seizures, and cerebellar atrophy that occurs almost exclusively in the Finnish population. We report the first North American child with this condition.
Shevell
M I
MI
Department of Neurology/Neurosurgery, McGill University, Montreal, Quebec, Canada.
Colangelo
P
P
Treacy
E
E
Polomeno
R C
RC
Rosenblatt
B
B
D001284:Atrophy; D001929:Brain Edema / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D004569:Electroencephalography; D005071:Evoked Potentials / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D009896:Optic Atrophy / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics*; D013577:Syndrome