title: Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.
abstract: BACKGROUND
  Vanishing white matter disease is caused by mutations of the eukaryotic translation initiation factor 2B (EIF2B) and is a prevalent cause of inherited childhood leukoencephalopathy. Infantile and early childhood onset forms are associated with chronic progressive neurological signs, with episodes of rapid, neurological, and poor prognosis, with death in few months or years. In contrast, onset in late childhood and adult onset is rare and is associated with long-term survival because of milder signs and slow progression.
  
  
  METHODS
  We present a patient with a genetically proven vanishing white matter disease, typical brain MRI, presenting with opsoclonus myoclonus in early childhood and a delayed development of adult multifocal dystonia and schizoaffective disorder with continued survival. In addition we have also reviewed the relevant literature based on 42 previous articles summarizing clinical details of 318 individuals with vanishing white matter disease (single case reports to case series). In 283, genetic mutation of EIF2B was confirmed with the onset of vanishing white matter disease reported as antenatal (seven), infantile (eight), early childhood (107), between infantile and early childhood (20), late childhood (25), between early and late childhood (three), adult (68), and between late childhood and adult (21).
  
  
  CONCLUSIONS
  Various movement disorders have been described with vanishing white matter disease either at presentation (mimicking an opsoclonus myoclonus syndrome) or in adulthood (dystonia and myoclonus) with continuing survival. Relatively preserved cognition is a novel presentation and is reported in this article along with a comprehensive literature review.
authors.affiliation: Department of Neurology, National Parkinson Foundation International Centre of Excellence, King's College Hospital and King's College, London, United Kingdom; Department of Neurology, Technical University Dresden, Dresden, Germany. Electronic address: lisa.klingelhoefer@nhs.net.
authors.forename: Lisa
authors.initials: L
authors.lastname: Klingelhoefer
authors.affiliation: Essex Centre for Neurological Sciences, Romford, United Kingdom.
authors.forename: Anjum
authors.initials: A
authors.lastname: Misbahuddin
authors.affiliation: National Hospital for Neurology and Neurosurgery, London, United Kingdom.
authors.forename: Tania
authors.initials: T
authors.lastname: Jawad
authors.affiliation: Department of Neuropsychiatry, Maudsley Hospital, London, United Kingdom.
authors.forename: John
authors.initials: J
authors.lastname: Mellers
authors.affiliation: Department of Neuroradiology, King's College Hospital, London, United Kingdom.
authors.forename: Jozef
authors.initials: J
authors.lastname: Jarosz
authors.affiliation: Department of Neurology, King's College Hospital, London, United Kingdom.
authors.forename: Robert
authors.initials: R
authors.lastname: Weeks
authors.affiliation: Department of Neurology, National Parkinson Foundation International Centre of Excellence, King's College Hospital and King's College, London, United Kingdom.
authors.forename: Kallol
authors.initials: K
authors.lastname: Ray Chaudhuri
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D053578:Opsoclonus-Myoclonus Syndrome / Q000503:physiopathology*
chemical_list: D020717:Eukaryotic Initiation Factor-2B
keywords: VWMD; dystonia; movement disorder; opsoclonus myoclonus syndrome; vanishing white matter disease