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Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images

  • Diagnostic Neuroradiology
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Abstract

Purpose

Adult-onset neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder described mainly in the Japanese population, with characteristic DWI abnormalities at the junction between gray and white matter. We identify possible cases of NIID in the picture archive and communication system (PACS) of a tertiary neurological referral hospital in Singapore and describe their radiological features.

Methods

The neuroradiology imaging database was reviewed using keyword search of radiological reports to identify patients who had “subcortical U fibre” abnormalities on DWI. MRI were retrospectively reviewed, and those fulfilling inclusion criteria were invited for skin biopsy to detect nuclear inclusions by light and electron microscopy.

Results

Twelve Chinese patients (nine female; median age 70.5 years) were enrolled. Seven patients were being assessed for dementia and five for other neurological indications. In all patients, DWI showed distinctive subcortical high signal with increased average apparent diffusion coefficient (ADC), involving frontal, parietal, and temporal more than occipital lobes; the corpus callosum and external capsule were affected in some patients. On T2-weighted images, cerebral and cerebellar atrophy and white matter hyperintensity of Fazekas grade 2 and above were seen in all patients. Three patients underwent skin biopsy; all were positive for intranuclear hyaline inclusion bodies on either p62 staining or electron microscopy, which are pathognomonic for NIID.

Conclusion

Previously undiagnosed patients with NIID can be identified by searching for abnormalities at the junction between gray and white matter on DWI in PACS and subsequently confirmed by skin biopsy. Radiologists should recognize the distinctive neuroimaging pattern of this dementing disease.

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Acknowledgments

The authors wish to thank Junko Takahashi-Fujikasaki for invaluable help with slide preparation and Qianhui Cheng for administrative support.

Funding

This work was supported by the NNI Health Research Endowment Fund, which has no involvement in study design, data collection/analysis/interpretation, report writing, or publication decisions.

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Authors and Affiliations

  1. Department of Neuroradiology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore, 308433, Republic of Singapore

    Wai-Yung Yu & C. C. Tchoyoson Lim

  2. Duke-NUS Graduate Medical School, Singapore, Singapore

    Wai-Yung Yu, Zheyu Xu, Jeanne M. M. Tan, Adeline Ng & C. C. Tchoyoson Lim

  3. Department of Neurology, National Neuroscience Institute, Singapore, Singapore

    Zheyu Xu, Jeanne M. M. Tan & Adeline Ng

  4. Department of Pathology, Tan Tock Seng Hospital, Singapore, Singapore

    Hwei-Yee Lee

  5. Department of Diagnostic Radiology, Tokyo Metropolitan Geriatric Centre, Tokyo, Japan

    Aya Tokumaru

  6. Department of Neurology & Neuropathology and the Brain Bank for Aging Research, Tokyo Metropolitan Geriatric Centre and Institute of Gerontology, Tokyo, Japan

    Shigeo Murayama

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  1. Wai-Yung Yu
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Yu, WY., Xu, Z., Lee, HY. et al. Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images. Neuroradiology 61, 1281–1290 (2019). https://doi.org/10.1007/s00234-019-02257-2

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