{"title":"神经元核内包涵病:1例确诊病例及3例典型病例MRI特征分析。","authors":"Jin Liu, Chuan Zhang, Jiwu Wang, Hanfeng Yang","doi":"10.2174/0115734056335449250407103447","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Neuronal Intranuclear Inclusion Disease (NIID) is a rare and clinically heterogeneous neurodegenerative disorder leading to diagnostic challenges. This study aims to investigate the clinical and characteristic radiological features of four adult female patients, offering insights into the clinical and radiological heterogeneity of NIID and its misdiagnosis potential.</p><p><strong>Case representation: </strong>This case study presents a retrospective analysis of clinical data from four adult female patients, including one confirmed case and three with typical Magnetic Resonance Imaging (MRI) manifestations. The high signal intensity patterns on Diffusion-Weighted Imaging (DWI) and Fluid- Attenuated Inversion Recovery (FLAIR) sequences were reviewed in focus.</p><p><strong>Discussion: </strong>All four patients were adult females with common symptoms of NIID, such as recurrent headaches, cognitive decline, and autonomic dysfunction, accompanied by symptoms like vomiting, slowed responses, behavioral changes, and focal neurological symptoms. Genetic testing revealed a NOTCH2NLC gene mutation with GGC>113 repeats in one patient. Three patients from the same family presented with headaches, followed by vomiting and progressive unresponsiveness with two of them exhibiting abnormal behavior and one experiencing weakness and pain in the right limbs. Neurological assessments revealed peripheral neuropathy and intermittent confusion, among other manifestations. MRI features of all four patients were consistent with NIID, displaying high signals at the corticospinal junction on DWI and FLAIR sequences, with one case involving the vermis of the cerebellum.</p><p><strong>Conclusion: </strong>This case report enhances our understanding of NIID's diverse clinical phenotypes and the critical role of advanced MRI and genetic testing in its diagnosis. The core imaging feature of NIID is the high signal along the corticospinal junction on MRI, which, combined with NOTCH2NLC gene testing, can significantly enhance the early recognition and diagnosis of NIID. Therefore, this study deepens our understanding of the complex clinical phenotypes and imaging characteristics of NIID, providing crucial guidance for clinical practice.</p>","PeriodicalId":54215,"journal":{"name":"Current Medical Imaging Reviews","volume":" ","pages":""},"PeriodicalIF":1.1000,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Neuronal Intranuclear Inclusion Disease: A Confirmed Case Report and Analysis of MRI Characteristics in Three Typical Cases.\",\"authors\":\"Jin Liu, Chuan Zhang, Jiwu Wang, Hanfeng Yang\",\"doi\":\"10.2174/0115734056335449250407103447\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>Neuronal Intranuclear Inclusion Disease (NIID) is a rare and clinically heterogeneous neurodegenerative disorder leading to diagnostic challenges. This study aims to investigate the clinical and characteristic radiological features of four adult female patients, offering insights into the clinical and radiological heterogeneity of NIID and its misdiagnosis potential.</p><p><strong>Case representation: </strong>This case study presents a retrospective analysis of clinical data from four adult female patients, including one confirmed case and three with typical Magnetic Resonance Imaging (MRI) manifestations. The high signal intensity patterns on Diffusion-Weighted Imaging (DWI) and Fluid- Attenuated Inversion Recovery (FLAIR) sequences were reviewed in focus.</p><p><strong>Discussion: </strong>All four patients were adult females with common symptoms of NIID, such as recurrent headaches, cognitive decline, and autonomic dysfunction, accompanied by symptoms like vomiting, slowed responses, behavioral changes, and focal neurological symptoms. Genetic testing revealed a NOTCH2NLC gene mutation with GGC>113 repeats in one patient. Three patients from the same family presented with headaches, followed by vomiting and progressive unresponsiveness with two of them exhibiting abnormal behavior and one experiencing weakness and pain in the right limbs. Neurological assessments revealed peripheral neuropathy and intermittent confusion, among other manifestations. MRI features of all four patients were consistent with NIID, displaying high signals at the corticospinal junction on DWI and FLAIR sequences, with one case involving the vermis of the cerebellum.</p><p><strong>Conclusion: </strong>This case report enhances our understanding of NIID's diverse clinical phenotypes and the critical role of advanced MRI and genetic testing in its diagnosis. The core imaging feature of NIID is the high signal along the corticospinal junction on MRI, which, combined with NOTCH2NLC gene testing, can significantly enhance the early recognition and diagnosis of NIID. Therefore, this study deepens our understanding of the complex clinical phenotypes and imaging characteristics of NIID, providing crucial guidance for clinical practice.</p>\",\"PeriodicalId\":54215,\"journal\":{\"name\":\"Current Medical Imaging Reviews\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2025-04-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Medical Imaging Reviews\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2174/0115734056335449250407103447\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Medical Imaging Reviews","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2174/0115734056335449250407103447","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
Neuronal Intranuclear Inclusion Disease: A Confirmed Case Report and Analysis of MRI Characteristics in Three Typical Cases.
Objective: Neuronal Intranuclear Inclusion Disease (NIID) is a rare and clinically heterogeneous neurodegenerative disorder leading to diagnostic challenges. This study aims to investigate the clinical and characteristic radiological features of four adult female patients, offering insights into the clinical and radiological heterogeneity of NIID and its misdiagnosis potential.
Case representation: This case study presents a retrospective analysis of clinical data from four adult female patients, including one confirmed case and three with typical Magnetic Resonance Imaging (MRI) manifestations. The high signal intensity patterns on Diffusion-Weighted Imaging (DWI) and Fluid- Attenuated Inversion Recovery (FLAIR) sequences were reviewed in focus.
Discussion: All four patients were adult females with common symptoms of NIID, such as recurrent headaches, cognitive decline, and autonomic dysfunction, accompanied by symptoms like vomiting, slowed responses, behavioral changes, and focal neurological symptoms. Genetic testing revealed a NOTCH2NLC gene mutation with GGC>113 repeats in one patient. Three patients from the same family presented with headaches, followed by vomiting and progressive unresponsiveness with two of them exhibiting abnormal behavior and one experiencing weakness and pain in the right limbs. Neurological assessments revealed peripheral neuropathy and intermittent confusion, among other manifestations. MRI features of all four patients were consistent with NIID, displaying high signals at the corticospinal junction on DWI and FLAIR sequences, with one case involving the vermis of the cerebellum.
Conclusion: This case report enhances our understanding of NIID's diverse clinical phenotypes and the critical role of advanced MRI and genetic testing in its diagnosis. The core imaging feature of NIID is the high signal along the corticospinal junction on MRI, which, combined with NOTCH2NLC gene testing, can significantly enhance the early recognition and diagnosis of NIID. Therefore, this study deepens our understanding of the complex clinical phenotypes and imaging characteristics of NIID, providing crucial guidance for clinical practice.
期刊介绍:
Current Medical Imaging Reviews publishes frontier review articles, original research articles, drug clinical trial studies and guest edited thematic issues on all the latest advances on medical imaging dedicated to clinical research. All relevant areas are covered by the journal, including advances in the diagnosis, instrumentation and therapeutic applications related to all modern medical imaging techniques.
The journal is essential reading for all clinicians and researchers involved in medical imaging and diagnosis.