title: Unusual imaging findings in brain and spinal cord in two siblings with maple syrup urine disease.
abstract: Maple syrup urine disease (MSUD) is a rare metabolic disease affecting the neural tissue. While the brain abnormalities present on MRI are well known, spinal imaging features have not been studied. We herewith report an unusual finding of enlarged Virchow Robin spaces in brain and novel spinal cord changes in two biochemically diagnosed cases of MSUD. To the best of our knowledge, spinal MRI findings in cases of MSUD have not been previously reported. Knowledge of spinal MRI findings may be useful in diagnosis of this rare disorder.
authors.affiliation: National Institute of Mental Health & Neurosciences (NIMHANS) - Neuroimaging and Interventional Radiology, Bangalore, Karnataka, India.
authors.forename: Maya
authors.initials: M
authors.lastname: Bhat
authors.forename: Chandrajit
authors.initials: C
authors.lastname: Prasad
authors.forename: Parayil Sankaran
authors.initials: PS
authors.lastname: Bindu
authors.forename: Zarina
authors.initials: Z
authors.lastname: Aziz
authors.forename: Rita
authors.initials: R
authors.lastname: Christopher
authors.forename: Jitender
authors.initials: J
authors.lastname: Saini
mesh_terms: D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008375:Maple Syrup Urine Disease / Q000473:pathology*; D035781:Siblings; D013116:Spinal Cord / Q000473:pathology*
keywords: MRI; MSUD; brain; spinal cord