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
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