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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Diffusion-weighted MR imaging of unusual white matter lesion in a patient with Menkes disease
Eun Shin Lee1, Jae Wook Ryoo, Dae Seob Choi
1Department of Rehabilitation Medicine, Gyeongsang National University College of Medicine, Jinju 660-702, Korea.
Abstract:
We report here on the diffusion-weighted imaging of unusual white matter lesions in a case of Menkes disease. On the initial MR imaging, the white matter lesions were localized in the deep periventricular white matter in the absence of diffuse cortical atrophy. The lesion showed diffuse high signal on the diffusion-weighted images and diffuse progression and persistent hyperintensity on the follow up imaging. Our case suggests that the white matter lesion may precede diffuse cortical atrophy in a patient with Menkes disease.
Insights
Unusual white matter lesions in Menkes disease appeared on diffusion-weighted imaging before cortical atrophy. These lesions showed persistent high signals, suggesting they may precede broader brain changes in this rare genetic disorder.
Area of Science:
- Neuroimaging
- Genetics
- Neurology
Background:
- Menkes disease is a rare genetic disorder affecting copper metabolism.
- White matter lesions are a known feature, but their early presentation is not well-characterized.
- Diffusion-weighted imaging (DWI) is crucial for detecting subtle white matter abnormalities.
Observation:
- A case of Menkes disease presented with unique white matter lesions.
- Initial magnetic resonance (MR) imaging revealed lesions in the deep periventricular white matter.
- No diffuse cortical atrophy was observed at the initial stage.
Findings:
- The white matter lesions exhibited diffuse high signal intensity on DWI.
- Follow-up imaging demonstrated progressive and persistent hyperintensity of these lesions.
- This pattern suggests early and specific white matter involvement.
Implications:
- The findings suggest that white matter lesions in Menkes disease can precede diffuse cortical atrophy.
- DWI may be a sensitive tool for early detection of neurological involvement in Menkes disease.
- This case highlights the importance of considering Menkes disease in pediatric patients with unexplained white matter abnormalities.
