Article
Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.
Pediatric neurology - 1 Jul 2014
Klingelhoefer Lisa, Misbahuddin Anjum, Jawad Tania, Mellers John, Jarosz Jozef, Weeks Robert, Ray Chaudhuri Kallol
Abstract excerpt
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...
Topics
- Brain
- Child, Preschool
- Eukaryotic Initiation Factor-2B
- Female
- Humans
- Leukoencephalopathies
- Magnetic Resonance Imaging
- Mutation
- Opsoclonus-Myoclonus Syndrome