Leukoencephalopathy with vanishing white matter presenting with presenile dementia.

摘要

Vanishing white matter disease (VWM, OMIM #306896) is an autosomal recessive leukoencephalopathy typically of childhood onset. Patients usually present with progressive cerebellar ataxia and spasticity. MRI shows a diffuse leukoencephalopathy. Part of the abnormal cerebral white matter has the signal intensity of CSF on all pulse sequences, reflecting progressive disappearance of white matter, which is replaced by fluid. Five disease genes have been identified, EIF2B1-5, which encode the five subunits of translation initiation factor eIF2B, essential for translation of mRNA into protein.1 Adult onset cases have been described. The p.Argll3His mutation in EIF2B5 is the most frequent mutation both in children and adults and is usually associated with a relatively benign phenotype.2 We report a late onset case homozygous for the p.Argll3His mutation in EIF2B5, presenting with slowly progressive cognitive impairment with a neuropsychological profile of subcortical dementia.