Article
Vanishing white matter disease.
The Lancet. Neurology - 1 May 2006
van der Knaap Marjo S, Pronk Jan C, Scheper Gert C
Abstract excerpt
Vanishing white matter disease (VWM) is one of the most prevalent inherited childhood leucoencephalopathies. The classical phenotype is characterised by early childhood onset of chronic neurological deterioration, dominated by cerebellar ataxia. VWM is unusual because of its clinically evident sensitivity to febrile infections, minor head trauma, and acute fright, which may cause rapid neurological deterioration...
Topics
- Age of Onset
- Brain Diseases
- Cerebellar Ataxia
- Child
- Child, Preschool
- Eukaryotic Initiation Factor-2B
- Humans
- Infant
- Infant, Newborn
- Magnetic Resonance Imaging
- Phenotype
- Prognosis