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11.07.2019 | Diagnostic Neuroradiology

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

verfasst von: Wai-Yung Yu, Zheyu Xu, Hwei-Yee Lee, Aya Tokumaru, Jeanne M. M. Tan, Adeline Ng, Shigeo Murayama, C. C. Tchoyoson Lim

Erschienen in: Neuroradiology | Ausgabe 11/2019

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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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Titel: Identifying patients with neuronal intranuclear inclusion disease in Singapore using characteristic diffusion-weighted MR images
verfasst von: Wai-Yung Yu
Zheyu Xu
Hwei-Yee Lee
Aya Tokumaru
Jeanne M. M. Tan
Adeline Ng
Shigeo Murayama
C. C. Tchoyoson Lim
Publikationsdatum: 11.07.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Neuroradiology / Ausgabe 11/2019
Print ISSN: 0028-3940
Elektronische ISSN: 1432-1920
DOI: https://doi.org/10.1007/s00234-019-02257-2

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