Department of Neurology and Neuroscience, The First Hospital of Jilin University, Changchun 130021, China.
Department of Neurology, Peking University First Hospital, Beijing 100000, China.
Neuro Endocrinol Lett. 2020 Oct;41(4):155-161.
Neuronal intranuclear inclusion disease is a rare hereditary neurodegenerative disease characterized by localized eosinophilic intracytoplasmic inclusion bodies in cells of the nervous system and internal organs. This disorder is frequently missed or misdiagnosed, as there is significant heterogeneity of its clinical presentation. Recently, genetic sequencing has revealed complex links between neuronal intranuclear inclusion disease and other neurodegenerative diseases, potentially explaining the diversity of clinical manifestations. Herein, we describe the case of a 68-year-old male Chinese patient who was initially diagnosed with Parkinson's disease based on classic symptomatology and ¹²³I-metaiodobenzylguanidine scintigraphy results and was subsequently treated with oral methyldopa for 3 years. He developed a paroxysmal tic before he presented to our hospital for treatment after a convulsive seizure. Brain magnetic resonance imaging identified signal hyperintensity at the corticomedullary junction on diffusion-weighted imaging. Skin biopsy results and genetic testing confirmed a revised diagnosis of neuronal intranuclear inclusion disease. This report highlights that patients clinically diagnosed with Parkinson's disease may actually be in the early stages of neuronal intranuclear inclusion disease, suggesting that patients with suspected Parkinson's disease should also be screened for this disease.
神经元核内包涵体病是一种罕见的遗传性神经退行性疾病，其特征是神经系统和内脏细胞内出现局灶性嗜酸性细胞内包涵体。由于其临床表现存在显著异质性，该疾病经常被漏诊或误诊。最近，基因测序揭示了神经元核内包涵体病与其他神经退行性疾病之间的复杂联系，这可能解释了临床表现的多样性。在此，我们描述了一名 68 岁的中国男性患者的病例。该患者最初根据典型症状和 ¹²³I-间碘苄胍闪烁扫描结果被诊断为帕金森病，并接受了 3 年的口服美多巴治疗。在因抽搐发作前来我院治疗之前，他出现了阵发性抽搐。脑磁共振成像显示弥散加权成像上皮质-髓质交界处信号高。皮肤活检结果和基因检测证实了神经元核内包涵体病的修正诊断。本报告强调，临床上诊断为帕金森病的患者实际上可能处于神经元核内包涵体病的早期阶段，这表明疑似帕金森病的患者也应筛查这种疾病。
