A 67-year-old woman presented with a 2-year history of forgetfulness and unsteadiness. She scored 17 on the Montreal Cognitive Assessment. She had tremor of head and upper limbs (video 1) since early adulthood, which was diagnosed as essential tremor. Brain MRI showed leukoencephalopathy and high signal intensity along the corticomedullary junction on diffusion-weighted images (figure 1). The diagnosis of adult-onset neuronal intranuclear inclusion disease (NIID) was confirmed by skin biopsy showing eosinophilic intranuclear inclusions (figure 2).1 NIID is a clinically heterogeneous rare neurodegenerative disease.2 Its characteristic MRI pattern should prompt confirmation of the diagnosis by skin biopsy.
Video 1
Video recorded at age 72 years. The patient showed tremor of head and upper limbs that were present at rest and worsened on posture and movement. She failed tandem walking. Download Supplementary Video 1 via http://dx.doi.org/10.1212/011288_Video_1
Axial MRI brain performed at age 72 years showed bilateral subcortical white matter lesions (arrows) on axial fluid-attenuated inversion recovery images (A–C) and high signal intensity along the corticomedullary junction (arrows) on diffusion-weighted images (D–F).
Hematoxylin & eosin stain of fibroblasts (A) and ubiquitin immunostain of sweat gland cells (B) showing intranuclear inclusions (arrows); the inclusions consisted of electron-dense filamentous materials without membrane structure on electron microscopy (C).
Study Funding
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Footnotes
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Teaching slides links.lww.com/WNL/B293
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