Extensive white-matter changes in case of adult polyglucosan body disease

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.