title: Acute axonal neuropathy in maple syrup urine disease.
abstract: A 25-year-old woman with maple syrup urine disease (MSUD) developed generalized weakness over 1 week. She had severe leg and moderate arm weakness, areflexia, and distal sensory loss. Plasma branched-chain amino acid concentrations were elevated, reflecting an acute exacerbation of the disease. Electrodiagnostic studies indicated an acute axonal polyneuropathy and sural nerve biopsy revealed acute wallerian degeneration without inflammation. Peripheral neuropathy, although not identified previously as a clinical feature of MSUD, may become more common as chronic dietary restrictions and improved management of the disease allow survival into adulthood.
authors.affiliation: Department of Neurology, University of Pennsylvania School of Medicine, 3400 Spruce Street, 3 West Gates, Philadelphia, Pennsylvania 19104-4283, USA. kleopa@mail.med.upenn.edu
authors.forename: K A
authors.initials: KA
authors.lastname: Kleopa
authors.forename: D M
authors.initials: DM
authors.lastname: Raizen
authors.forename: C A
authors.initials: CA
authors.lastname: Friedrich
authors.forename: M J
authors.initials: MJ
authors.lastname: Brown
authors.forename: S J
authors.initials: SJ
authors.lastname: Bird
mesh_terms: D000208:Acute Disease; D000328:Adult; D001369:Axons / Q000473:pathology*; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008375:Maple Syrup Urine Disease / Q000150:complications / Q000473:pathology* / Q000523:psychology; D018908:Muscle Weakness / Q000209:etiology / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D013497:Sural Nerve / Q000473:pathology; D014855:Wallerian Degeneration / Q000473:pathology