Abstract
Neuronal intranuclear inclusion disease (NIID) is a rare and slowly progressing neurodegenerative disease characterized by the presence of eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs. Sporadic NIID case was more frequently encountered than familial. In our study, we reported two adult-onset NIID patients from a family and described their clinical, imaging, and pathological features. The first patient was a 61-year-old man who only presented with non-specific headache and dizziness; however, Brain MRI with diffusion-weighted images (DWI) sequence showed high-intensity signal involving a small regional portion of corticomedullary junction in the frontal and parietal lobe. The older sister of former, a 64-year-old female, who developed sudden onset of weakness of the right limb was admitted to our neurology department. Compared with the first patient, similar DWI high-intensity signal but more extensive area in the corticomedullary junction was found in her brain MRI examination, also prominent leukoencephalopathy in T2-weighted image. Significantly, skin pathology of the first patient showed that typical inclusions with strongly positive P62 and ubiquitin antibody could be seen in the nuclei of sweat gland cells, adipocytes, and fibroblasts. FMR1 gene was negative. Although rare, adult-onset NIID should be considered when the characteristic radiology changes of high intensity signal involving the corticomedullary junction in the brain DWI sequence was found. In addition, the pathological result of skin biopsy combined with negative genetic testing FMR1 or NOTCH2NLC can contribute to the accurate diagnosis of the disease. This article aims to improve the radiologists’ knowledge of NIID by our cases presentation and reviewing literature.
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References
Sone J, Sobue G (2017) [Neuronal Intranuclear inclusion disease]. [J]. Brain Nerve 69(1):5–16
Lindenberg R, Rubinstein LJ, Herman MM, Haydon GB (1968) A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. A possible residuum of an old herpesvirus infection. Acta Neuropathol 10:54–73
Takahashi-Fujigasaki J, Nakano Y, Uchino A, Murayama S (2016) Adult-onset neuronal intranuclear hyaline inclusion disease is not rare in older adults. [J]. Geriatr Gerontol Int 16:51–56
Liu X, Liu X, Du Y et al (2019) A case of recurrent vomiting: extending the spectrum of neuronal intranuclear inclusion disease. [J]. Neurol Sci.2019,40(12):2661–2664
Sone J, Kitagawa N, Sugawara E, Iguchi M, Nakamura R, Koike H, Iwasaki Y, Yoshida M, Takahashi T, Chiba S, Katsuno M, Tanaka F, Sobue G (2014) Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. [J]. J Neurol Neurosurg Psychiatry 85(3):354–356
Sugiyama A, Sato N, Kimura Y, Maekawa T, Enokizono M, Saito Y, Takahashi Y, Matsuda H, Kuwabara S (2017) MR imaging features of the cerebellum in adult-onset neuronal Intranuclear inclusion disease: 8 cases. [J]. AJNR Am J Neuroradiol 38(11):2100–2104
Kawarabayashi T, Nakamura T, Seino Y et al (2018) Disappearance of MRI imaging signals in a patient with neuronal intranuclear inclusion disease. [J]. J Neurol Sci 388:1–3
Yu WY, Xu Z, Lee HY et al (2019) Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images. [J]. Neuroradiology 2019, 61(11):1281–1290
Gelpi E, Botta-Orfila T, Bodi L et al (2017) Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma. [J]. Brain 140(8):e51
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 (2019) Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. [J]. Nat Genet 51(8):1215–1221
Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z, Chen Z, Li Y, Wang Y, Min HX, Wang XJ, You Y, Zhang RX, Chen XY, Yi F, Zhou YF, Long HY, Zhou CJ, Hou X, Wang JP, Xie B, Liang F, Yang ZY, Sun QY, Allen EG, Shafik AM, Kong HE, Guo JF, Yan XX, Hu ZM, Xia K, Jiang H, Xu HW, Duan RH, Jin P, Tang BS, Shen L (2019) Expansion of human-specific GGC repeat in neuronal Intranuclear inclusion disease-related disorders. [J]. Am J Hum Genet 105(1):166–176
Sone J, Mori K, Inagaki T et al (2016) Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. [J]. Brain 139(Pt 12):3170–3186
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Qin, X., Chen, H., Zhou, C. et al. Neuronal intranuclear inclusion disease: two case report and literature review. Neurol Sci 42, 293–296 (2021). https://doi.org/10.1007/s10072-020-04613-0
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DOI: https://doi.org/10.1007/s10072-020-04613-0