A 66-year-old woman presented with dementia, urinary incontinence, and episodic coma for 3 years without remarkable family history. Brain MRI showed leukoencephalopathy and a high signal intensity along the corticomedullary junction on diffusion-weighted imaging (DWI) (zigzag edging sign) (figure 1). Skin biopsy revealed intranuclear inclusion bodies in sweat glands and perivascular cells (figure 2). FMRI CGG permutation was not present. Finally, the diagnosis of neuronal intranuclear inclusion disease (NIID) was confirmed.
Brain MRI shows bilateral cerebral white matter lesions, hypointensity on T1 (A), hyperintensity on the T2 (B) and fluid-attenuated inversion recovery (C), and high signal intensity along the corticomedullary junction on diffusion-weighted imaging (D).
Electron microscope shows intranuclear inclusion bodies in sweat gland (A, B) and perivascular cells (C, D) (arrows).
Adult-onset NIID is a clinically heterogeneous neurodegenerative disorder. The zigzag edging sign on DWI is a strong diagnostic clue.1 A definite diagnosis requires skin biopsy revealing intranuclear inclusions and genetic evaluation ruling out fragile X syndrome.1,2
Study funding
No targeted funding reported.
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
Appendix Authors
Footnotes
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.
Teaching slides links.lww.com/WNL/A876
- © 2019 American Academy of Neurology
Letters: Rapid online correspondence
REQUIREMENTS
If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Topics Discussed
Alert Me
Recommended articles
MRI diagnosis of neuronal intranuclear inclusion disease leukoencephalopathy
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging
Clinical Reasoning: A 65-Year-Old Woman With Tremor