A 66-year-old woman developed behavioral abnormalities and altered sensorium and showed high signals along the corticomedullary junction on diffusion-weighted image (Figure 1A) and the corresponding ADC images (Figure 1B). Postcontrast magnetic resonance imaging showed enhancement of the left occipital lobe cortex (Figure 1C). One year later, she had recurrence of the same symptoms and her MRI showed enhancement of the right occipital lobe cortex (Figure 1D). These imaging findings correlated with her reversible encephalopathy episodes, manifested by behavioral abnormalities and altered sensorium. Finally, a diagnosis of neuronal intranuclear inclusion disease (NIID) was established based on skin biopsy (Figure 2A, B) and genetic testing.
(A, arrow) Diffusion-weighted images showing high signals along the corticomedullary junction; the corresponding ADC images also show similar findings (B, arrow). (C, arrow) Postcontrast MRI showing enhanced lesions distributed in the left occipital lobe cortex and no enhancement in the right occipital lobe cortex. (D, arrow) Postcontrast MRI showing enhanced lesions distributed in the right occipital lobe cortex and no enhancement in the left occipital lobe cortex.
(A, Arrow) Immunostaining showed p62-positive intranuclear inclusions in sweat gland cells (×400). (B, Arrow) Immunostaining showed ubiquitin-positive intranuclear inclusions in sweat gland cells (×400).
Occipital cortical enhancement may be a diagnostic clue for NIID in patients with reversible encephalopathy episodes.1
Study Funding
This study was supported by the Project of Hunan Health Committee (No. 202103070437).
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
Appendix Authors
Footnotes
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Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
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J.B Wu and Q.L Li contributed equally to this work.
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Submitted and externally peer reviewed. The handling editor was Roy Strowd III, MD, Med, MS.
- Received January 28, 2022.
- Accepted in final form August 12, 2022.
- © 2022 American Academy of Neurology
