Case of the Month
Section Editor: Nicholas Stence, MD
Children's Hospital Colorado, Aurora, CO
February 2020
Next Case of the Month Coming March 10...
Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS)
- Background:
- Autosomal dominant
- Mutations in the colony stimulating factor 1 receptor (CSF1R) gene
- Also known as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
- Most common cause of adult-onset leukodystrophy (approximately 10%)
- Clinical Presentation:
- Dementia, neuropsychiatric changes, motor decline
- Manifests exclusively in adults, typically fourth to fifth decade
- Prominent symptoms include parkinsonism (not levodopa-responsive) and upper motor neuron signs.
- Mean disease duration is approximately 6.8 years.
- Key Diagnostic Features:
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CT: Small, symmetric calcifications, mainly located adjacent to the anterior horns of the lateral ventricle and in the parietal subcortical white matter
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MRI: Symmetric, T2-hyperintense/T1-hypointense signal abnormality in the frontoparietal and periventricular white matter, spares the U-fibers; often associated with restricted diffusion in the early phases of the disease (termed "deep white dots"); small cysts; involvement of the corpus callosum with T2 hyperintensity and thinning
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- Differential Diagnosis:
- Neuroinflammatory diseases in the early stages
- Alexander disease
- Frontal variant of X-linked adrenoleukodystrophy
- Metachromatic leukodystrophy
- Treatment:
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Incurable disease with no available treatment other than supportive care available
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