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Extensive white-matter changes in case of adult polyglucosan body disease
M Berkhoff1, J Weis, G Schroth
1Department of Neurology, Inselspital, Berne, Switzerland.
Abstract:
Extensive white matter signal changes were observed on T2-weighted images of a 49-year-old man. He presented with a slowly progressive gait disorder, and finally developed severe dementia. Extensive metabolic and infectious investigations failed to disclose the underlying cause during life. Autopsy revealed adult polyglucosan body disease. We discuss MRI findings likely to permit this diagnosis if combined with clinical findings and nerve or skin biopsy.
Insights
Adult polyglucosan body disease is a rare cause of dementia and gait disorder. Autopsy revealed the condition, highlighting the importance of MRI findings combined with clinical data for diagnosis.
Area of Science:
- Neurology
- Pathology
- Radiology
Background:
- Adult polyglucosan body disease (APBD) is a rare genetic disorder.
- It is characterized by the accumulation of polyglucosan bodies in various tissues, primarily the nervous system.
Observation:
- A 49-year-old man presented with progressive gait disorder and severe dementia.
- T2-weighted MRI revealed extensive white matter signal changes.
- Initial metabolic and infectious workups were inconclusive.
Findings:
- Autopsy confirmed the diagnosis of adult polyglucosan body disease.
- The study highlights specific MRI findings associated with APBD.
Implications:
- Early diagnosis of APBD may be possible with characteristic MRI findings and clinical presentation.
- Nerve or skin biopsy can aid in confirming the diagnosis.
- Understanding imaging biomarkers is crucial for diagnosing rare neurological disorders.