Last modified on Sunday, February 15 2009.
Courtesy of Dr. Mark Cohen
This 12 year old boy was normal until age 3, when he developed progressive ataxia and spasticity. MRI demonstrated diffuse cavitation of cerebral white matter with high signal intensity in cerebellar and brainstem white matter. The best diagnosis is:
Combination of clinical history, MRI, and pathologic features are typical of this disease, which results from mutations involving subunits of eukaryocytic initiation factor 2B (
Deficiency of brancher enzyme may result in accumulation of glycogen within neurons and glial cells, but is not primarily a white matter disorder (
The foamy oligodendroglial cells seen in VWMD are distinct from the often multinucleate cells of globoid cell leukodystrophy (
A-G leukoencephalopathy includes diffuse calcification of white matter and basal ganglia, and generally manifests within the first few months of life (