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Jejunal Duplication Cyst
Joseph Junewick, MD FACR
over 10 years ago
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Vacuolating Megaloencephalic Leukoencephalopathy

Case Detail

Anatomy: Brain
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 11 years ago
Updated: over 11 years ago
Tags: PEDS
Modality/Study Types: MR
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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.

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