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Erschienen in: Wiener klinische Wochenschrift 1-2/2024

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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Literatur
5.
Metadaten
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

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