Temporal Changes in Brain Magnetic Resonance Imaging Findings over 16 Years in a Patient with Neuronal Intranuclear Inclusion Disease

Tamura, Akiyoshi; Fujino, Yuzo; Sone, Jun; Shiga, Kiyoto

doi:10.2169/internalmedicine.6371-20

Cited by 5 publications

(5 citation statements)

References 8 publications

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“…Nine cases of this pattern were observed in the literature (16-18). According to Tamura et al (19), one NIID patient's DWIs were negative for the first 4 years before showing high signals in the CMJ of the bilateral frontal-parietal lobes. We suppose that among NIID individuals, this may be the traditional longitudinal DWI pattern.…”

Section: Discussionmentioning

confidence: 97%

Longitudinal course of hyperintensity on diffusion weighted imaging in adult-onset neuronal intranuclear inclusion disease patients

et al. 2023

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BackgroundHigh signals on diffusion weighted imaging along the corticomedullary junction (CMJ) have demonstrated excellent diagnostic values for adult-onset neuronal intranuclear inclusion disease (NIID). However, the longitudinal course of diffusion weighted imaging high intensities in adult-onset NIID patients has rarely been investigated.MethodsWe described four NIID cases that had been discovered using skin biopsy and NOTCH2NLC gene testing, after diffusion weighted imaging exhibiting the distinctive corticomedullary junction high signals. Then using complete MRI data from NIID patients, we analyzed the chronological diffusion weighted imaging alterations of those individuals that had been published in Pub Med.ResultsWe discussed 135 NIID cases with comprehensive MRI data, including our four cases, of whom 39 had follow-up outcomes. The following are the four primary diffusion weighted imaging dynamic change patterns: (1) high signal intensities in the corticomedullary junction were negative on diffusion weighted imaging even after an 11-year follow-up (7/39); (2) diffusion weighted imagings were initially negative but subsequently revealed typical findings (9/39); (3) high signal intensities vanished during follow-up (3/39); (4) diffusion weighted imagings were positive at first and developed in a step-by-step manner (20/39). We discovered that NIID lesions eventually damaged the deep white matter, which comprises the cerebral peduncles, brain stem, middle cerebellar peduncles, paravermal regions, and cerebellar white matter.ConclusionThe longitudinal dynamic changes in NIID of diffusion weighted imaging are highly complex. We find that there are four main patterns of dynamic changes on diffusion weighted imaging. Furthermore, as the disease progressed, NIID lesions eventually involved the deep white matter.

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Section: Discussionmentioning

confidence: 97%

Longitudinal course of hyperintensity on diffusion weighted imaging in adult-onset neuronal intranuclear inclusion disease patients

et al. 2023

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“…Despite the majority of sporadic NIID cases showed regionally decreased cerebral blood flow of the frontal, parietal, precuneous, and posterior cingulate cortices on single-photon computed emission tomography (SPECT) [7,18,19], a few cases carried out positron emission tomography/computed tomography (PET/CT) with 18 F-FDG to explore the brain metabolism. In a sporadic adult-onset NIID case predominantly with dementia and gait disturbance, 18 F-FDG PET/CT demonstrated glucose hypometabolism in bilateral cerebral hemisphere, especially in the frontoparietal cortex, wider than the range of leukoencephalopathy on MRI [20].…”

Section: Discussionmentioning

confidence: 99%

Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report

et al. 2022

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Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in cells in the central and peripheral nervous system. High-intensity signal in the corticomedullary junction on diffusion-weighted imaging (DWI) is supportive to the diagnosis of NIID. We describe a patient with sporadic adult-onset NIID but without any high-intensity signal on DWI and T2-weighted imaging (T2WI). Case presentation A 58-year-old woman without special family history developed mild persistent tremor in the right hand and deteriorated 2 years later. At 60 years of age, the patient began to conceive the bank, police and internet being deceptive, further presented apathy and confusion after two and a half years, as well as fabrication of non-existent things. Despite the treatment of antipsychotic drugs due to a diagnosis of mental disorder, the patient appeared weakness in the right limbs. Neurological examination revealed mutism, resting tremor, cogwheel-like rigidity in upper limbs, and weakness in all limbs. Brain magnetic resonance imaging displayed no cerebral atrophy initially but atrophy of frontal, temporal and parietal lobes 5 years later. No any high-intensity signal on DWI and T2WI was revealed. However, hypometabolism in the cortexes with atrophy and the right putamen nucleus were showed on 18F-fluoro-deoxy-glucose positron emission tomography/magnetic resonance. On the basis of 107 GGC repeats (normal number <40) in NOTCH2NLC gene and intranuclear inclusions with p62 immunoreactivity in the adipocyte of cutaneous sweat duct by skin biopsy, NIID was finally diagnosed. The symptomatic treatment was given but the patient had no evident improvement. Conclusions Our case highlights that despite the lack of high-intensity signal on DWI and T2WI, NIID is still considered for patients with parkinsonism and mental impairment.

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“…Patient 2 had a typical DWI high signal at the junction of the cortex and medulla more than 2 years after onset and continued to exhibit typical imaging manifestations until 5 years after the course of the disease. An imaging observation study that tracked a patient for 16 years found that the patient's initial T2 FLAIR images showed spatial high-intensity lesions in the subcortical white matter, while DWI showed no specific abnormalities ( 15 ). It took 16 years to develop leucoencephalopathy on T2 FLAIR images, and the high-intensity signal in the corticomedullary junction on DWI had gradually expanded after symptom onset.…”

Section: Discussionmentioning

confidence: 99%

Case report: Two siblings with neuronal intranuclear inclusion disease exhibiting distinct clinicoradiological findings

et al. 2022

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Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic hyaline intranuclear inclusions. Owing to its widely varying clinical manifestations, NIID is frequently misdiagnosed or overlooked. However, a characteristic high-intensity corticomedullary junction signal on diffusion-weighted imaging (DWI) is often indicative of NIID. In this study, we described the case of two sisters with NIID who presented with distinct symptoms and imaging data. The younger sister showed symptoms similar to those of mitochondrial encephalopathy, with a reversible high-intensity signal from the cortex on T2 and DWI. The elder sister showed a characteristic high-signal “ribbon sign” in the corticomedullary junction on DWI. Skin biopsy confirmed that both had neuronal intranuclear inclusion. Two years later, the younger sister also developed the characteristic high-signal “ribbon sign” in the corticomedullary junction on DWI. This case study provides new insights into the complexity of NIID. The findings suggest that patients with this condition, including those belonging to the same family, may exhibit varying clinical and imaging features at different times.

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Temporal Changes in Brain Magnetic Resonance Imaging Findings over 16 Years in a Patient with Neuronal Intranuclear Inclusion Disease

Cited by 5 publications

References 8 publications

Longitudinal course of hyperintensity on diffusion weighted imaging in adult-onset neuronal intranuclear inclusion disease patients

Longitudinal course of hyperintensity on diffusion weighted imaging in adult-onset neuronal intranuclear inclusion disease patients

Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report

Case report: Two siblings with neuronal intranuclear inclusion disease exhibiting distinct clinicoradiological findings

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