Hosting 721 files, 2924 images, and 4 contributors.

Random Case

Thanatophoric Dysplasia
Joseph Junewick, MD FACR
over 8 years ago
Enter A Workflow
Standard2   Academic2

Please choose a workflow. A standard workflow allows you to browse the repository with full case detail; the academic workflow allows you to browse the repository with limited case detail revealed. Double click on the images to launch image viewer.

ARSt Case Repository

Vacuolating Megaloencephalic Leukoencephalopathy

Case Detail

Anatomy: Brain
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 9 years ago
Updated: over 8 years ago
Tags: PEDS
Modality/Study Types: MR
Adobe32 PDF Imagej32 ImageJA


6 year old female with mild spasticity.

Case Images


Vacuolating Megaloencephalic Leukoencephalopathy (van der Knaap’s disease)


Temporal subcortical cysts.
Extensive T2 hyperintensity of the cerebral white matter.


van der Knaap’s disease is a genetic disease localized to the telomeric region of the long arm of chromosome 22. Clinically patients present with megalencephaly, delayed motor development, slowly progressive ataxia, spasticity and seizures are present. There are no abnormalities of amino acids, organic acids, lysosomes, peroxisomes or mitochondria. Glycine levels in the cerebrospinal fluid are moderately elevated. Myelin density and staining properties are normal but there are a myriad of vacuoles in the lamellae of the myelin sheaths. Subcortical cysts typically occur in the temporal and frontoparietal regions and increase in size and number over time. Deep white matter (periventricular white matter, corpus callosum, internal capsules) and basal ganglia are relatively spared. Spectroscopy demonstrates decreased NAA and increased choline and glycine peaks.


Tu YF, et al. Vacuolating Megaloencephalic Leukoencephalopathy with Mild Clinical course Validated by Diffusion Tensor Imaging and MR Spectroscopy. AJNR 2004 24:1041-104.

Corporate Office: 616.363.7272, 3264 North Evergreen Drive, Grand Rapids, MI 49525

Spectrum Health Helen Devos Childrens Hospital GE HealthCare