Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes

Han, Xuan; Han, Moonsik; Liu, Ning; Jin, Xu; Zhang, Yan; Zhang, Yun; Hong, Daojun; Zhang, Wei

doi:10.1002/brb3.1477

Cited by 15 publications

(13 citation statements)

References 10 publications

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“…Similar to other neurodegenerative diseases, no appropriate methods exist to definitively treat NIID pathophysiological mechanisms; only supportive therapies and symptomatic treatments are available. An NIID patient identified by Han et al, was given methylprednisolone pulse therapy (500 mg/daily) for three consecutive days, to gradually relived their symptoms [27]. In another Japanese case report, intravenous immunoglobulin (IVIg) therapy improved symptoms in a NIID patient [28].…”

Section: Discussionmentioning

confidence: 99%

Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report

Huang

Zhan

et al. 2021

BMC Neurol

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Background Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, the clinical manifestations of which are complex and easily misdiagnosed. NIID clinical characteristics are varied, affecting the central and peripheral nervous systems and autonomic nerves. In this study, we present an NIID case with both stroke-like onset and encephalitic attacks, which is a rare case report. Case presentation A 68-year-old Chinese female presented with sudden aphasia and limb hemiplegia as the first symptoms, as well as fever, cognitive impairment and mental irritability from encephalitic attacks. During hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity from diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. Electrophysiological tests revealed the main site of injury was at the myelin sheath in the motor nerves. A skin biopsy revealed eosinophilic spherical inclusion bodies in the nuclei of small sweat gland cells, fibroblasts and fat cells, whilst immunohistochemistry revealed that p62 and ubiquitin antibodies were positive. From genetic analyses, the patient was not a carrier of the fragile X mental retardation 1 (FMR1) permutation, but repeated GGC sequences in the NOTCH2NLC gene confirmed an NIID diagnosis. Through antipsychotic and nutritional support therapy, the patient’s symptoms were completely relieved within 3 weeks. Conclusions This report of an NIID case with both stroke-like onset and encephalitic attacks provides new information for NIID diagnoses, and a comprehensive classification of clinical characteristics.

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Section: Discussionmentioning

confidence: 99%

Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report

Huang

Zhan

et al. 2021

BMC Neurol

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“…The patient mainly presented with fever, mental abnormality, cognitive impairment, and autonomic impairment characterized by vomiting and urinary incontinence. To the best of our knowledge, there are few cases of NIID with mental abnormality as the initial and main symptom in China [ 8 ]. Perhaps, they can be recognized as the mental abnormality prominent group.…”

Section: Discussionmentioning

confidence: 99%

Neuronal intranuclear inclusion disease with mental abnormality: a case report

Chi

Huang³

et al. 2020

BMC Neurol

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Background Neuronal intranuclear inclusion disease (NIID) is a chronic progressive neurodegenerative disease that is characterized by the discovery of eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems and visceral organs. In this paper, we report a case of an adult-onset neuronal intranuclear inclusion disease presenting with mental abnormality in China. Case presentation A 62-year-old woman presented with mental abnormality and forgetfulness for 3 months before she was admitted to our hospital. There were prodromal symptoms of fever before she had the mental disorder. Encephalitis was first suspected, and the patient underwent lumbar puncture and brain magnetic resonance imaging (MRI). A cerebrospinal fluid (CSF) examination indicated normal pressure, a normal white blood cell count, and slightly elevated protein and glucose levels. Coxsackie B virus, enterovirus, and cytomegalovirus tests showed normal results. Bacterial culture and Cryptococcus neoformans test results were negative. The contrast-enhanced MRI of the brain was normal. The brain diffusion-weighted imaging (DWI) showed a symmetrically distributed strip-shaped hyperintensity signal of the corticomedullary junction in the bilateral frontal, parietal, and temporal lobes. We considered the diagnosis of the NIID, and therefore, skin biopsy was performed. The electron microscopy revealed that intranuclear inclusions in the nucleus of fibrocytes existed and were composed of filaments. Conclusions NIID is a rare neurodegenerative disease with diverse clinical manifestations. In clinical work, when a patient presents with abnormal mental behavior and exhibits hyperintensity signals on DWI images of the corticomedullary junction, it is crucial to consider the diagnosis of NIID.

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“…Most patients present with sudden headache and fever as the first symptom (3), accompanied by a consciousness disorder or epilepsy (4). The above symptoms can also be recurrent (5,6). However, we could not locate any reports of a stroke-like onset of hemiplegia in NIID.…”

Section: Introductionmentioning

confidence: 93%

A Case Report of Sporadic Adult Neuronal Intranuclear Inclusion Disease (NIID) With Stroke-Like Onset

Lin

Jin

et al. 2020

Front. Neurol.

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Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. The clinical manifestations of NIID are complex and easily misdiagnosed. Based on the current knowledge of this disease, it is usually chronic, with almost no acute cases. Stroke-like disease is an extremely rare type of NIID.Case Presentation: A 61-year-old woman was admitted to our hospital with sudden left limb weakness. Diffusion magnetic resonance imaging (MRI) demonstrated high signal intensity in the skin-medullary junction area. Tissue pathology showed eosinophilic inclusions in the nuclei of the sweat gland cells and fat cells of the skin. Subsequent genetic analysis of the fragile X chromosome mental retardation gene 1 (FMR1) gene showed that the CGG repeat number was in the normal range, excluding fragile X-related tremor/ataxia syndrome (FXTAS). After 3 weeks of hospitalization, the patient's condition improved, and the left limb muscle strength recovered. Her symptoms were almost completely diminished after 3 months. Conclusion:This case demonstrates the strong clinical heterogeneity of NIID. NIID can manifest as acute hemiplegia and a stroke-like attack. This case study provides new information for the diagnosis of NIID and the classification of the clinical characteristics.

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Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes

Cited by 15 publications

References 10 publications

Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report

Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report

Neuronal intranuclear inclusion disease with mental abnormality: a case report

A Case Report of Sporadic Adult Neuronal Intranuclear Inclusion Disease (NIID) With Stroke-Like Onset

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