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Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and
K Brockmann1, J Finsterbusch, B Terwey
1Department of Paediatrics and Neuropaediatrics, Childreńs Hospital, Georg-August-University, Robert-Koch-Strasse 40, 37075 Göttingen, Germany. kbrock@med.uni-goettingen.de
Abstract:
A 37-year-old macrocephalic woman was investigated for increasing gait disturbance due to longstanding spasticity and ataxia. MRI showed widespread bilateral increase in signal from cerebral white matter on T2-weighted images. Numerous subcortical cysts were visible in anterior-temporal and parietal regions. These clinical and neuroradiological features are those of megalencephalic leukoencephalopathy with subcortical cysts (MLC), a recently delineated white-matter disease with onset in childhood. Quantitative localised proton MR spectroscopy of white matter revealed marked reduction of N-acetylaspartate, creatine, and choline with normal values for myo-inositol, consistent with axonal loss and astrocytic proliferation. Diffusion tensor imaging showed an increased apparent diffusion coefficient and reduced anisotropy in affected white matter pointing to reduced cell density with an increased extracellular space. These findings are in line with histological changes alterations known to occur in MLC.
Insights
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a white matter disease. Neuroimaging and spectroscopy reveal axonal loss and astrocytic proliferation in affected individuals.
Area of Science:
- Neurology
- Neuroimaging
- White Matter Diseases
Background:
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, recently identified white matter disorder.
- Typically presents in childhood with neurological deficits.
Observation:
- A 37-year-old woman presented with gait disturbance, spasticity, and ataxia.
- MRI revealed widespread white matter T2 signal abnormalities and subcortical cysts in the anterior-temporal and parietal regions.
Findings:
- MR spectroscopy indicated reduced N-acetylaspartate, creatine, and choline, suggesting axonal loss and astrocytic proliferation.
- Diffusion tensor imaging demonstrated increased diffusivity and reduced anisotropy, consistent with reduced cell density and increased extracellular space.
Implications:
- The findings confirm the characteristic neuroimaging and spectroscopic profile of MLC.
- This case highlights the potential for adult presentation of a typically childhood-onset white matter disease.