title: Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.
abstract: PEHO syndrome is a rare symptom complex of severe progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy. Disease onset is in early infancy. The current case report presents and discusses serial conventional MR imaging findings and serial functional studies including diffusion tensor imaging and quantitative MR spectroscopy findings in a 6-year-old child with PEHO.
authors.affiliation: Department of Diagnostic Imaging, University Children's Hospital Zurich, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland. thierry.huisman@kispi.unizh.ch
authors.forename: T A G M
authors.initials: TA
authors.lastname: Huisman
authors.forename: A
authors.initials: A
authors.lastname: Klein
authors.forename: B
authors.initials: B
authors.lastname: Werner
authors.forename: T
authors.initials: T
authors.lastname: Straube
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D001284:Atrophy; D001927:Brain Diseases / Q000175:diagnosis*; D001929:Brain Edema / Q000175:diagnosis; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis; D038524:Diffusion Magnetic Resonance Imaging; D004487:Edema / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000032:analysis; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D019636:Neurodegenerative Diseases / Q000175:diagnosis; D009896:Optic Atrophy / Q000175:diagnosis*; D013036:Spasms, Infantile / Q000175:diagnosis*; D013577:Syndrome
chemical_list: D001224:Aspartic Acid; D019344:Lactic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline