Department of Neurology, Chongqing Renji Hospital, University of Chinese Academy of Sciences, Chongqing, 400062, China.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
BMC Neurol. 2021 Mar 31;21(1):142. doi: 10.1186/s12883-021-02164-1.
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.
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.
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.
神经元核内包涵体病（NIID）是一种神经退行性疾病，临床表现复杂，容易误诊。NIID 的临床特征多种多样，影响中枢和周围神经系统以及自主神经系统。在本研究中，我们报告了一例具有类似中风发作和脑炎发作的 NIID 病例，这是一例罕见的病例报告。
一名 68 岁的中国女性以突然失语和肢体偏瘫为首发症状，同时伴有脑炎发作时的发热、认知障碍和精神烦躁。住院期间，脑磁共振成像（MRI）检查显示双侧额部灰质-白质交界处弥散加权成像（DWI）高信号。电生理学检查显示损伤的主要部位在运动神经的髓鞘。皮肤活检显示小汗腺细胞、成纤维细胞和脂肪细胞的核内有嗜酸性球形包涵体，免疫组化显示 p62 和泛素抗体阳性。遗传分析显示，患者不是脆性 X 智力低下 1 号（FMR1）易位携带者，但 NOTCH2NLC 基因中重复的 GGC 序列证实了 NIID 的诊断。通过抗精神病和营养支持治疗，患者的症状在 3 周内完全缓解。
本报告中具有类似中风发作和脑炎发作的 NIID 病例提供了 NIID 诊断和临床特征全面分类的新信息。
