[MIM 603 896, 615 889]

(VWM)

Acronym for Childhood Ataxia with Central nervous system Hypomyelination.

Unknown prevalence. Autosomal recessive transmission of a mutation of one of the five genes (in the majority of cases: EIF2B5) coding each for one of the subunits of the initiation complex of the EIF2B translation the role of which is to regulate protein synthesis in case of cellular stress.

Form of leukodystrophy that includes:

-        onset between 2 and 5 years by a cerebellospastic syndrome, often revealed or exacerbated by mild head trauma or a trivial viral infection

-        diffuse involvement of the supratentorial white matter (at MRI) showing a cavitary aspect

-        at histological exam: cavitary orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes a foamy appearance.

-        usually death after 5 to 10 years of evolution

The prognosis, related to the level of disability, seems correlated to the age of onset of the disease, the earliest forms being the most severe.

Anesthetic implications:

severely polyhandicapped patient

References :

-         Labauge P, Fogli A, Niel F, Rodriguez D, Boesplug-Tanguy O.
Le syndrome CACH/VWM et les leucodystrophies liées à des mutations EIF2B.
Revue Neurol 2007 ; 163 : 793-9.

Updated: November 2016