Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images
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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.
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.
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.
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.
KeywordsNeuronal intranuclear inclusion disease (NIID) Dementia MRI DWI Picture archive and communication systems (PACS)
The authors wish to thank Junko Takahashi-Fujikasaki for invaluable help with slide preparation and Qianhui Cheng for administrative support.
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.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in the studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
This study was approved by the Institutional Review Board. Informed consent was obtained from all participants or their legal representatives.
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