title: Wernicke-like encephalopathy during classic maple syrup urine disease decompensation.
abstract: We describe a new neuroradiologic picture observed during metabolic decompensation in two maple syrup urine disease (MSUD) patients that resembles Wernicke encephalopathy (WE). Clinical observations and the review of the literature regarding WE and MSUD pathophysiology prompted us to hypothesize a pathogenic link between these two disorders. Based on these findings, clinicians and neuroradiologists should be aware of MSUD as a possible predisposing factor of WE in children.
authors.affiliation: Division of Neuroradiology, University Hospital of Padua, Padua, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Manara
authors.forename: M
authors.initials: M
authors.lastname: Del Rizzo
authors.forename: A P
authors.initials: AP
authors.lastname: Burlina
authors.forename: A
authors.initials: A
authors.lastname: Bordugo
authors.forename: V
authors.initials: V
authors.lastname: Citton
authors.forename: P
authors.initials: P
authors.lastname: Rodriguez-Pombo
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
authors.forename: A B
authors.initials: AB
authors.lastname: Burlina
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D002952:Citric Acid Cycle; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008375:Maple Syrup Urine Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D008928:Mitochondria / Q000378:metabolism; D008954:Models, Biological; D017422:Sequence Analysis, DNA; D013997:Time Factors; D014899:Wernicke Encephalopathy / Q000150:complications / Q000378:metabolism*