title: Imaging findings of anaplastic astrocytoma in a child with maple syrup urine disease: a case report.
abstract: Maple syrup urine disease (MSUD) is an inborn error of branched-chain amino acid metabolism, which usually presents in childhood with encephalopathy due to cerebral edema and dysmyelination. Even with treatment, metabolic stressors may precipitate later episodes of acute decompensation. Changes related to cerebral and white matter edema have been described by magnetic resonance imaging (MRI), and imaging can aid in both initial diagnosis and evaluation of decompensation. To date, there are no published known reports of cancer in patients with MSUD. Here, we present the first case report of an anaplastic astrocytoma in a teenager with MSUD, with a discussion of imaging findings and the use of magnetic resonance spectroscopy (MRS) to help distinguish between tumor and metabolic changes.
authors.affiliation: Department of Medical Imaging, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, USA, jawdoc3@gmail.com.
authors.forename: Jessie
authors.initials: J
authors.lastname: Aw-Zoretic
authors.forename: Nitin R
authors.initials: NR
authors.lastname: Wadhwani
authors.forename: Rishi R
authors.initials: RR
authors.lastname: Lulla
authors.forename: Lulla R
authors.initials: LR
authors.lastname: Rishi
authors.forename: Maura E
authors.initials: ME
authors.lastname: Ryan
mesh_terms: D000293:Adolescent; D001254:Astrocytoma / Q000150:complications*; D016543:Central Nervous System Neoplasms / Q000150:complications*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008375:Maple Syrup Urine Disease / Q000150:complications*