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Case Reports
. 2023 Aug 10:17:1247403.
doi: 10.3389/fnins.2023.1247403. eCollection 2023.

Not your usual neurodegenerative disease: a case report of neuronal intranuclear inclusion disease with unconventional imaging patterns

Luyao Xu  1 , Hongxia Zhang  1 , Hanye Yuan  1 , Liwen Xie  1 , Junliang Zhang  1 , Zhigang Liang  1
Affiliations
Case Reports

Not your usual neurodegenerative disease: a case report of neuronal intranuclear inclusion disease with unconventional imaging patterns

Luyao Xu et al. Front Neurosci. .

Abstract

Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative illness with characteristic brain magnetic resonance imaging (MRI) manifestations: diffuse symmetric white-matter hyperintensities in lateral cerebral ventricle areas in fluid-attenuated inversion recovery (FLAIR) and high-intensity signals along the corticomedullary junction of the frontal-parietal-temporal lobes in diffusion weighted imaging (DWI). Here, we report a case of adult-onset NIID who was misdiagnosed with Susac syndrome (SS) due to unusual corpus callosum imaging findings.

Case presentation: A 39-year-old man presented with chronic headache, blurred vision, tinnitus, and numbness in the hands as initial symptoms, accompanied by cognitive slowing and decreased memory. Brain MRI revealed round hypointense lesions on T1-weighted imaging (T1WI) and hyperintense lesions on T2WI/FLAIR/DWI in the genu and splenium of the corpus callosum. An initial diagnosis of SS was made based on the presence of the SS-typical symptoms and SS-characteristic radiology changes. Furthermore, the patient's symptoms improved upon completion of a combined pharmacotherapy plan. However, no significant changes were evident 18 months after the brain MRI scan. Eventually, the patient was then diagnosed with NIID based on a skin biopsy and detection of expanded GGC (guanine, guanine, cytosine) repeats in the NOTCH2NLC gene.

Conclusion: The present NIID case in which there was simultaneous onset of altered nervous and visual system functioning and atypical imaging findings, the atypical imaging findings may reflect an initial change of NIID leukoencephalopathy.

Keywords: Susac syndrome; characteristic imaging features; diffusion weighted imaging; genetic testing; neuronal intranuclear inclusion disease; skin biopsy.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Brain MRI. (A,I,M,Q) Multiple round hypointense lesions on T1 in the corpus callosum. (B,F,J,N,R) Multiple round hyperintense lesions on T2 in the corpus callosum. (C,K,O,S) Multiple round hyperintense lesions on FLAIR located in the corpus callosum. (D,L,P,T) Multiple hyperintense lesions on DWI located in the corpus callosum. (E) Multiple hyperintense lesions on contrast-enhanced MR located in the corpus callosum. (G,H) The macular capillary was dilated and there is fluorescein leaking from the dilated blood vessels. Areas of hyperintensity or hypointensity are denoted by the white arrows.
Figure 2
Figure 2
(A) Electropherograms showing GC-rich regions using PCR and repeat-primed PCR assays in affected individuals (a) and positive control subjects (b). (B) GC-rich PCR showed the patient had 101 GGC repeats in the 5′ UTR of NOTCH2NLC (c); GC-rich PCR showed the GGC repeats in the 5′ UTR of NOTCH2NLC in positive control subjects (d).
Figure 3
Figure 3
The timeline of the patient’s course of disease.
See this image and copyright information in PMC

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