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。

IF 1.1 4区 医学 Q3 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
Jin Liu, Chuan Zhang, Jiwu Wang, Hanfeng Yang
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引用次数: 0

摘要

目的:神经元核内包涵病(NIID)是一种罕见的临床异质性神经退行性疾病,其诊断具有挑战性。本研究旨在探讨4例成年女性患者的临床和特征性影像学特征,了解NIID的临床和影像学异质性及其误诊可能性。病例描述:本病例研究回顾性分析了4例成年女性患者的临床资料,包括1例确诊病例和3例典型的磁共振成像(MRI)表现。重点综述了扩散加权成像(DWI)和流体衰减反演恢复(FLAIR)序列的高信号强度模式。讨论:所有4例患者均为成年女性,均有NIID的常见症状,如复发性头痛、认知能力下降和自主神经功能障碍,并伴有呕吐、反应减慢、行为改变和局灶性神经症状等症状。基因检测显示1例患者出现NOTCH2NLC基因突变,GGC bbbb113重复。来自同一家庭的三名患者出现头痛,随后呕吐和进行性无反应,其中两名患者表现出异常行为,一名患者出现右肢无力和疼痛。神经学评估显示周围神经病变和间歇性精神错乱,以及其他表现。所有4例患者的MRI特征均与NIID一致,DWI和FLAIR序列在皮质脊髓交界处显示高信号,其中1例涉及小脑蚓部。结论:本病例报告增强了我们对NIID不同临床表型的理解,以及先进的MRI和基因检测在其诊断中的关键作用。NIID的核心影像学特征是MRI上沿皮质脊髓交界处的高信号,结合NOTCH2NLC基因检测,可显著增强NIID的早期识别和诊断。因此,本研究加深了我们对NIID复杂的临床表型和影像学特征的认识,为临床实践提供重要指导。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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来源期刊
CiteScore
2.60
自引率
0.00%
发文量
246
审稿时长
1 months
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.
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