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Dermatomyositis
Heather Borders, MD
over 7 years ago
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Case History


6 year old female with mild spasticity.


Case Detail

Anatomy: Brain
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 8 years ago
Updated: over 8 years ago
Tags: PEDS
Modality/Study Types: MR
Activities:
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Reveal Findings

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

Reveal 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.

Reveal Diagnosis

Vacuolating Megaloencephalic Leukoencephalopathy (van der Knaap’s disease)

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