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Vacuolating Megaloencephalic Leukoencephalopathy
Case Detail
| Anatomy: Brain |
 Joseph Junewick, MD FACR |
| Diagnostic Category: Metabolic |
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| Created: over 3 years ago |
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| Updated: over 2 years ago |
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| Tags:
PEDS
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| Modality/Study Types:
MR
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Activities:  PDF  ImageJA |
History
6 year old female with mild spasticity.
Case Images
Diagnosis
Vacuolating Megaloencephalic Leukoencephalopathy (van der Knaap’s disease)
Findings
Temporal subcortical cysts.
Extensive T2 hyperintensity of the cerebral white matter.
Discussion
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.
Reference
Tu YF, et al. Vacuolating Megaloencephalic Leukoencephalopathy with Mild Clinical course Validated by Diffusion Tensor Imaging and MR Spectroscopy. AJNR 2004 24:1041-104.