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Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images.
Neuroradiology. 2019 Nov; 61(11):1281-1290.N

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.

Authors+Show Affiliations

Department of Neuroradiology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore, 308433, Republic of Singapore. Duke-NUS Graduate Medical School, Singapore, Singapore.Duke-NUS Graduate Medical School, Singapore, Singapore. Department of Neurology, National Neuroscience Institute, Singapore, Singapore.Department of Pathology, Tan Tock Seng Hospital, Singapore, Singapore.Department of Diagnostic Radiology, Tokyo Metropolitan Geriatric Centre, Tokyo, Japan.Duke-NUS Graduate Medical School, Singapore, Singapore. Department of Neurology, National Neuroscience Institute, Singapore, Singapore.Duke-NUS Graduate Medical School, Singapore, Singapore. Department of Neurology, National Neuroscience Institute, Singapore, Singapore.Department of Neurology & Neuropathology and the Brain Bank for Aging Research, Tokyo Metropolitan Geriatric Centre and Institute of Gerontology, Tokyo, Japan.Department of Neuroradiology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore, 308433, Republic of Singapore. Tchoyoson_lim@nni.com.sg. Duke-NUS Graduate Medical School, Singapore, Singapore. Tchoyoson_lim@nni.com.sg.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31292692

Citation

Yu, Wai-Yung, et al. "Identifying Patients With Neuronal Intranuclear Inclusion Disease in Singapore Using Characteristic Diffusion-weighted MR Images." Neuroradiology, vol. 61, no. 11, 2019, pp. 1281-1290.
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):1281-1290.
Yu, W. Y., Xu, Z., Lee, H. Y., Tokumaru, A., Tan, J. M. M., Ng, A., Murayama, S., & Lim, C. C. T. (2019). Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images. Neuroradiology, 61(11), 1281-1290. https://doi.org/10.1007/s00234-019-02257-2
Yu WY, et al. Identifying Patients With Neuronal Intranuclear Inclusion Disease in Singapore Using Characteristic Diffusion-weighted MR Images. Neuroradiology. 2019;61(11):1281-1290. PubMed PMID: 31292692.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images. AU - Yu,Wai-Yung, AU - Xu,Zheyu, AU - Lee,Hwei-Yee, AU - Tokumaru,Aya, AU - Tan,Jeanne M M, AU - Ng,Adeline, AU - Murayama,Shigeo, AU - Lim,C C Tchoyoson, Y1 - 2019/07/11/ PY - 2019/06/24/received PY - 2019/07/02/accepted PY - 2019/7/12/pubmed PY - 2020/4/9/medline PY - 2019/7/12/entrez KW - DWI KW - Dementia KW - MRI KW - Neuronal intranuclear inclusion disease (NIID) KW - Picture archive and communication systems (PACS) SP - 1281 EP - 1290 JF - Neuroradiology JO - Neuroradiology VL - 61 IS - 11 N2 - 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. SN - 1432-1920 UR - https://www.unboundmedicine.com/medline/citation/31292692/Identifying_patients_with_neuronal_intranuclear_inclusion_disease_in_Singapore_using_characteristic_diffusion_weighted_MR_images_ L2 - https://dx.doi.org/10.1007/s00234-019-02257-2 DB - PRIME DP - Unbound Medicine ER -