Purpose or Case Report: Introduction

Leukodystrophy with vanishing white matter (VWM), previously known as childhood ataxia with central hypomyelination (CACH) is considered one of the most prevalent inherited white matter disorders. The incidence of VWM is not well defined, however, there appears to be a predilection for Caucasians.

Clinical history

We report a 20 month old male with a two week history of right hemiplegia and ataxic gait. Infant is well grown with no previous medical or familial history of note. Normal development and unremarkable birth history.

MRI findings

Brain MRI demonstrates multiple T2 hyperintense periventricular deep white matter cavitating lesions with cortical sparing (fig 2, top arrow). These lesions were of CSF signal intensity on FLAIR and demonstrated differential water content; central hypointensity with peripheral hyperintesity (fig 3). There is no restricted diffusion centrally, however, the peripheral areas that are hyperintense on FLAIR were restricting. The temporal lobes are unaffected. Single, non-enhancing cerebellar white matter hyperintensity (non-cystic) within right hemisphere (fig 2, bottom arrow); no cerebellar or brainstem atrophy. White matter involvement of the corpus callosum with outer rim sparing (fig 1). There is no hydrocephalus and no basal ganglia involvement.
Methods & Materials:
Results:
Conclusions: MRI diagnosis with typical symptomology of Leukodystrophy with VWM is well documented. Biochemical markers have limited use and genetic studies are not mandatory for diagnostic purposes. Despite a common mutation, phenotypic variation is common. Rarefraction and cystic degeneration of white matter is obligatory with involvement of the corpus callosum, sparing the outer rim is suggestive of the diagnosis.