title: Adult-onset vanishing white matter disease as differential diagnosis of primary progressive multiple sclerosis: a case report.
abstract: We report the case of a 42-year-old woman with a slowly progressive cerebellar syndrome. In contrast to a relatively mild clinical presentation, the magnetic resonance imaging (MRI) showed extensive leukencephalopathy with cystic degeneration. Initially primary progressive multiple sclerosis (PPMS) was suspected. Additional diffusion-weighted imaging revealed restricted diffusion in the white matter lesions with a reduced apparent diffusion coefficient. Genetic testing showed vanishing white matter disease (VWM) with c.260C>T EIF2B3 mutation. In conclusion, in cases with relatively mild symptoms and extensive white matter lesions, adult-onset VWM should be considered as differential diagnosis of PPMS and diffusion-weighted imaging may be helpful to identify suspected cases.
authors.affiliation: Klinikum rechts der Isar, Department of Neurology and Neuroradiology, Technische Universität München, Munich, Germany herwerth@lrz.tum.de.
authors.forename: Marina
authors.initials: M
authors.lastname: Herwerth
authors.affiliation: Klinikum rechts der Isar, Department of Neurology and Neuroradiology, Technische Universität München, Munich, Germany.
authors.forename: Benedikt J
authors.initials: BJ
authors.lastname: Schwaiger
authors.affiliation: Klinikum rechts der Isar, Department of Neurology and Neuroradiology, Technische Universität München, Munich, Germany.
authors.forename: Kornelia
authors.initials: K
authors.lastname: Kreiser
authors.affiliation: Klinikum rechts der Isar, Department of Neurology and Neuroradiology, Technische Universität München, Munich, Germany.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Hemmer
authors.affiliation: Klinikum rechts der Isar, Department of Neurology and Neuroradiology, Technische Universität München, Munich, Germany.
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Ilg
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009069:Movement Disorders / Q000209:etiology; D020528:Multiple Sclerosis, Chronic Progressive / Q000175:diagnosis* / Q000473:pathology; D009460:Neurologic Examination; D066127:White Matter / Q000473:pathology*
keywords: EIF2B3; Primary progressive multiple sclerosis; diffusion-weighted imaging; vanishing white matter disease