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30.06.2023 | case report

Neuronal intranuclear inclusion disease with cortical involvement in left hemisphere: a case report

verfasst von: Xiao-ju Wu, Yi-ying Jiang, Li-jie Chen, Guo-qiu Zhou, Dong-can Mo, Liu-yu Liu, Jian-li Li, Xiao-ling Li, Yu-lan Tang, Man Luo, M.D., Ph.D.

Erschienen in: Wiener klinische Wochenschrift | Ausgabe 1-2/2024

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Summary

Background

Neuronal intranuclear inclusion disease (NIID) is a rare highly heterogeneous disease. In this paper, we present a case of NIID featured in cortical involvement in left hemisphere of brain and the imaging changes in the process of the disease.

Case presentation

A 57-year-old female was hospitalized due to recurrent attacks of headache with cognitive impairment and tremor for 2 years. The symptoms of headache episodes were reversible. The characteristic radiologic change was high intensity signal involving the grey matter-white matter junction on the brain diffusion-weighted imaging (DWI), which existed in the frontal lobe and then extended backwards. Atypical features on fluid-attenuated inversion recovery (FLAIR) sequences showing small patchy high signals in the cerebellar vermis. High signals and edema were detected on FLAIR images along the cortex of the left occipito-parieto-temporal lobes, expanding and gradually shrinking in the follow-up visit. Besides, cerebral atrophy and bilateral symmetrical leukoencephalopathy were also detected. Skin biopsy and genetic testing confirmed the diagnosis of NIID.

Conclusion

Except for typical radiological change strongly suggesting NIID, it is also necessary to notice the insidious symptoms of NIID combining with some atypical imaging features to make an early diagnosis. Skin biopsies or genetic testing should be carried out early in patients with highly suspected NIID.

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Sone J, Kitagawa N, Sugawara E, et al. Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. J Neurol Neurosurg Psychiatry. 2014;85(3):354–6. https://doi.org/10.1136/jnnp-2013-306084.CrossRefPubMed

Sone J, Mori K, Inagaki T, et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain. 2016;139(Pt 12):3170–86. https://doi.org/10.1093/brain/aww249.CrossRefPubMedPubMedCentral

Liang H, Wang B, Li Q, et al. Clinical and pathological features in adult-onset NIID patients with cortical enhancement. J Neurol. 2020;267(11):3187–98. https://doi.org/10.1007/s00415-020-09945-7.CrossRefPubMed

Sugiyama A, Sato N, Kimura Y, et al. MR imaging features of the cerebellum in adult-onset neuronal Intranuclear inclusion disease: 8 cases. AJNR Am J Neuroradiol. 2017;38(11):2100–4. https://doi.org/10.3174/ajnr.A5336.CrossRefPubMedPubMedCentral

Lindenberg R, Rubinstein LJ, Herman MM, Haydon GB. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. A possible residuum of an old herpesvirus infection. Acta Neuropathol. 1968;10(1):54–73. https://doi.org/10.1007/BF00690510.CrossRefPubMed

Sone J, Tanaka F, Koike H, et al. Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. Neurology. 2011;76(16):1372–6. https://doi.org/10.1212/WNL.0b013e3182166e13.CrossRefPubMed

Sone J, Mitsuhashi S, Fujita A, et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019;51(8):1215–21. https://doi.org/10.1038/s41588-019-0459-y.CrossRefPubMed

Ma D, Tan YJ, Ng ASL, et al. Association of NOTCH2NLC repeat expansions with parkinson disease. JAMA Neurol. 2020;77(12):1559–63. https://doi.org/10.1001/jamaneurol.2020.3023.CrossRefPubMed

Fang P, Yu Y, Yao S, et al. Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy. Ann Clin Transl Neurol. 2020;7(4):517–26. https://doi.org/10.1002/acn3.51021.CrossRefPubMedPubMedCentral

10.

Sun QY, Xu Q, Tian Y, et al. Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor [published correction appears in Brain. 2020 Mar 1;143(3):e24. Brain. 2020;143(1):222–33. https://doi.org/10.1093/brain/awz372.CrossRefPubMed

11.

Jiao B, Zhou L, Zhou Y, et al. Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias. Neurobiol Aging. 2020;89:142.e1–142.e7. https://doi.org/10.1016/j.neurobiolaging.2020.01.010.CrossRefPubMed

12.

Ariza J, Rogers H, Monterrubio A, Reyes-Miranda A, Hagerman PJ, Martínez-Cerdeño V. A majority of FXTAS cases present with Intranuclear inclusions within Purkinje cells. Cerebellum. 2016;15(5):546–51. https://doi.org/10.1007/s12311-016-0776-y.CrossRefPubMed

13.

Hagerman PJ, Hagerman RJ. Fragile X‑associated tremor/ataxia syndrome. Ann N Y Acad Sci. 2015;1338(1):58–70. https://doi.org/10.1111/nyas.12693.CrossRefPubMedPubMedCentral

14.

Boivin M, Willemsen R, Hukema RK, Sellier C. Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function? Eur J Med Genet. 2018;61(11):674–9. https://doi.org/10.1016/j.ejmg.2017.11.001.CrossRefPubMed

15.

Abe K, Fujita M. Over 10 years MRI observation of a patient with neuronal intranuclear inclusion disease. BMJ Case Rep. 2017;2017(2017):bcr2016218790. https://doi.org/10.1136/bcr-2016-218790.CrossRefPubMedPubMedCentral

16.

Yokoi S, Yasui K, Hasegawa Y, et al. Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. Clin Neuropathol. 2016;35(6):375–80. https://doi.org/10.5414/NP300961.CrossRefPubMed

17.

Yu WY, Xu Z, Lee HY, et al. Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images. Neuroradiology. 2019;61(11):1281–90. https://doi.org/10.1007/s00234-019-02257-2.CrossRefPubMed

18.

El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015;116(1–2):4–12. https://doi.org/10.1016/j.ymgme.2015.06.004.CrossRefPubMed

19.

Okamura S, Takahashi M, Abe K, Inaba A, Sone J, Orimo S. A case of neuronal intranuclear inclusion disease with recurrent vomiting and without apparent DWI abnormality for the first seven years. Heliyon. 2020;6(8):e4675. https://doi.org/10.1016/j.heliyon.2020.e04675.CrossRefPubMedPubMedCentral

20.

Raza HK, Singh S, Rai P, et al. Recent progress in neuronal intranuclear inclusion disease: a review of the literature. Neurol Sci. 2020;41(5):1019–25. https://doi.org/10.1007/s10072-019-04195-6.CrossRefPubMed

21.

Yu J, Liufu T, Zheng Y, et al. CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model. Proc Natl Acad Sci U S A. 2022;119(41):e2208649119. https://doi.org/10.1073/pnas.2208649119.CrossRefPubMedPubMedCentral

Titel: Neuronal intranuclear inclusion disease with cortical involvement in left hemisphere: a case report
verfasst von: Xiao-ju Wu
Yi-ying Jiang
Li-jie Chen
Guo-qiu Zhou
Dong-can Mo
Liu-yu Liu
Jian-li Li
Xiao-ling Li
Yu-lan Tang
Man Luo, M.D., Ph.D.
Publikationsdatum: 30.06.2023
Verlag: Springer Vienna
Erschienen in: Wiener klinische Wochenschrift / Ausgabe 1-2/2024
Print ISSN: 0043-5325
Elektronische ISSN: 1613-7671
DOI: https://doi.org/10.1007/s00508-023-02232-1

Springer Medizin Österreich

Summary

Background

Case presentation

Conclusion

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