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

ABSTRACT: 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.

SUBMITTER: Liu Y

PROVIDER: S-EPMC9642335 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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

Liu Yutao Y Zeng Li L Yuan Yanpeng Y Wang Yangyang Y Chen Kai K Chen Yan Y Bai Jiaying J Xiao Feng F Xu Yuming Y Yang Jing J Tan Song S

Frontiers in neurology 20221025

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 ...[more]

PMID: 36388211

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Project description:Amyotrophic lateral sclerosis (ALS) is one of the differential diagnoses of diseases that occur in adulthood and lead to progressive generalized muscle weakness. Neuronal intranuclear inclusion disease (NIID) is a disease in which histopathologically eosinophilic nuclear inclusion bodies are found in various systems. Both familial and sporadic forms of the disease have been reported. Most cases of sporadic NIID are of the dementia type, in which the main symptom is dementia at the first onset. Familial NIID is more diverse, with the main dominant symptoms being muscle weakness (NIID-M), dementia (NIID-D), and parkinsonism (NIID-P). Furthermore, recently, a GGC-repeat expansion in the Notch 2 N-terminal like C (NOTCH2NLC) gene, which produces a toxic polyglycine-containing protein (uN2CpolyG) in patients with NIID, has been associated with the pathogenesis of ALS. These results suggest that sporadic NIIDs may have more diverse forms. To date, no autopsy cases of NIID patients with an ALS phenotype have been reported. Here, we describe the first autopsy case report of a patient with sporadic NIID who had been clinically diagnosed with ALS. A 65-year-old Japanese man with no family history of neuromuscular disease developed progressive muscle atrophy and weakness in all limbs. The patient was diagnosed with ALS (El Escoriral diagnostic criteria: probable ALS, laboratory-supported ALS). He had no cognitive dysfunction or neuropathies suggestive of NIID. He required respiratory assistance 48 months after onset. He died of pneumonia at the age of 79 years. Postmortem examinations revealed neuronal loss in the spinal anterior horns and motor cortex. In these affected regions, eosinophilic, round neuronal intranuclear inclusions were evident, which were immunopositive for ubiquitin, p62, and uN2CpolyG. No Bunina bodies or TDP-43-positive inclusions were observed in the brain or spinal cord. Our findings suggest that a small proportion of patients with NIID can manifest a clinical phenotype of ALS. Although skin biopsy is commonly used for the clinical diagnosis of NIID, it may also be useful to identify cases of NIID masquerading as ALS.

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

Publications

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

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