• 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, and Man Luo.
• Department of Neurology, First Affiliated Hospital of Guangxi Medical University, 530021, Nanning, China.
• Wien. Klin. Wochenschr. 2024 Jan 1; 136 (1-2): 677267-72.

BackgroundNeuronal 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 PresentationA 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.ConclusionExcept 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.© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature.

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