Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Dec 6;8(23):6122-6129.
doi: 10.12998/wjcc.v8.i23.6122.

Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report

Jiao-Jiao Guo  1 , Zi-Yi Wang  1 , Meng Wang  1 , Zong-Zhi Jiang  1 , Xue-Fan Yu  2
Affiliations
Case Reports

Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report

Jiao-Jiao Guo et al. World J Clin Cases. .

Abstract

Background: Neuronal intranuclear inclusion disease (NIID) is an unusual autosomal dominant, chronic progressive neurodegenerative disease. The clinical manifestations of NIID are complex and varied, complicating its clinical diagnosis. To the best of our knowledge, this report is the first to document sporadic adult-onset NIID mimicking acute cerebellitis (AC) that was finally diagnosed by imaging studies, skin biopsy, and genetic testing.

Case summary: A 63-year-old man presented with fever, gait unsteadiness, dysarthria, and an episode of convulsion. His serum levels of white blood cells and C-reactive protein were significantly elevated. T2-weighted brain magnetic resonance imaging and fluid attenuation inversion recovery sequences showed bilateral high-intensity signals in the medial part of the cerebellar hemisphere beside the vermis. While we initially considered a diagnosis of AC, the patient's symptoms improved significantly without special treatment, prompting our consideration of NIID. Diffusion-weighted imaging showed hyperintensity in the corticomedullary junction. Skin biopsy revealed eosinophilic inclusions positive for anti-p62 in epithelial sweat-gland cells. GGC repeat expansions in the Notch 2 N-terminal like C gene confirmed the diagnosis of NIID.

Conclusion: For patients with clinical manifestations mimicking AC, the possibility of underlying NIID should be considered along with prompt rigorous examinations.

Keywords: Acute cerebellitis; Case report; Genetic testing; Magnetic resonance imaging; Neuronal intranuclear inclusion disease; Skin biopsy.

PubMed Disclaimer

Conflict of interest statement

Conflict-of-interest statement: The authors declare that they have no conflict of interest to report.

Figures

Figure 1
Figure 1
Magnetic resonance imaging obtained at the level of the cerebellum. Bilateral high signal intensities in the cerebral hemispheres and middle cerebellar peduncle are visible. Cerebellum atrophy is evident. T2W: T2-weighted; FLAIR: Fluid attenuation inversion recovery; DWI: Diffusion-weighted imaging; ADC: Apparent diffusion coefficient.
Figure 2
Figure 2
Magnetic resonance imaging obtained at the level of the cerebrum. Diffusion-weighted imaging showed high-intensity signals along the corticomedullary junction. Both T2-weighted and fluid attenuation inversion recovery sequences showed marked cerebral atrophy, white matter degeneration, and old cerebral infarctions. T2W: T2-weighted; FLAIR: Fluid attenuation inversion recovery; DWI: Diffusion-weighted imaging; ADC: Apparent diffusion coefficient.
Figure 3
Figure 3
Skin biopsy specimen. A and B: Immunohistochemical staining showed that the inclusion bodies were positive for p62 (arrows; A: × 40; B: × 80); C: Hematein eosin staining reveals eosinophilic inclusion bodies (arrow; × 40); D: Electron microscopy. The red arrow indicates a spherical inclusion body composed of fibrous substances without membranes.
Figure 4
Figure 4
Repeat-primed polymerase chain reaction analysis. A: Normal control panel shows no repeat expansion; B: Panel of the patient shows the stripe-shaped pattern of expanded repeats of GCC located in the Notch 2 N-terminal like C.
See this image and copyright information in PMC

References

    1. Deng J, Gu M, Miao Y, Yao S, Zhu M, Fang P, Yu X, Li P, Su Y, Huang J, Zhang J, Yu J, Li F, Bai J, Sun W, Huang Y, Yuan Y, Hong D, Wang Z. Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLCgene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet. 2019;56:758–764. - PubMed
    1. Takahashi-Fujigasaki J. Neuronal intranuclear hyaline inclusion disease. Neuropathology. 2003;23:351–359. - PubMed
    1. Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, Araki K, Kato T, Nakamura T, Koike H, Takashima H, Hashiguchi A, Kohno Y, Kurashige T, Kuriyama M, Takiyama Y, Tsuchiya M, Kitagawa N, Kawamoto M, Yoshimura H, Suto Y, Nakayasu H, Uehara N, Sugiyama H, Takahashi M, Kokubun N, Konno T, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, Sobue G. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain. 2016;139:3170–3186. - PMC - PubMed
    1. Han X, Han M, Liu N, Xu J, Zhang Y, Zhang Y, Hong D, Zhang W. Adult-onset neuronal intranuclear inclusion disease presenting with typical MRI changes. Brain Behav. 2019;9:e01477. - PMC - PubMed
    1. Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019;51:1215–1221. - PubMed

Publication types