Sun Lu, Zhou Lihua, Ren Liyan, Han Chunru, Xue Qun, Ma Linqing
Department of Neurology, The People's Hospital of Suzhou New District, Suzhou, Jiangsu, China.
Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
Medicine (Baltimore). 2024 Nov 22;103(47):e40636. doi: 10.1097/MD.0000000000040636.
Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative disease with various manifestations and high heterogeneity. Clinical characteristics, imaging, skin biopsy, and genetic testing are necessary for its diagnosis. Electromyography may also be a useful tool for diagnosing NIID. In this study, we report a patient with motor and sensory nerve demyelination changes accompanied by axonal damage.
A 64-year-old woman was admitted to our department with gradually worsening forgetfulness for over a year. After 6 years of follow-up, the symptoms progressively deteriorated.
Cerebrospinal fluid analysis revealed increased protein levels. Brain magnetic resonance imaging showed characteristic "ribbon-like" high signals in the corticomedullary junction area on diffusion-weighted imaging. High-intensity signals in the white matter were also observed on T2 and fluid-attenuated inversion recovery imaging. Electromyography revealed multiple peripheral nerve damage and conduction changes, including motor and sensory nerve demyelination changes, accompanied by axonal damage. Skin biopsy revealed inclusion bodies with strong positive staining for P62 and ubiquitin antibodies in the nuclei of sweat gland cells, adipocytes, and fibroblasts. Genetic testing indicated that the number of GGC repeats in NOTCH2NLC alleles were 14 and 134, respectively. Consequently, the patient was diagnosed with NIID.
Currently, no effective treatment is available to delay the progression of the disease.
We report a case of NIID with subclinical peripheral neuropathy, although the patient did not experience sensory symptoms such as numbness in the extremities. Electromyography can be used to detect subclinical peripheral nerve damage.
神经元核内包涵体病（NIID）是一种进展缓慢的神经退行性疾病，表现多样且异质性高。其诊断需要临床特征、影像学检查、皮肤活检和基因检测。肌电图检查也可能是诊断NIID的有用工具。在本研究中，我们报告了1例伴有轴突损伤的运动和感觉神经脱髓鞘改变的患者。
一名64岁女性因记忆力逐渐减退1年余入住我科。经过6年随访，症状逐渐恶化。
脑脊液分析显示蛋白水平升高。脑磁共振成像在弥散加权成像的皮质髓质交界区显示特征性“带状”高信号。在T2加权成像和液体衰减反转恢复成像上也观察到白质高信号。肌电图显示多处周围神经损伤及传导改变，包括运动和感觉神经脱髓鞘改变，并伴有轴突损伤。皮肤活检显示汗腺细胞、脂肪细胞和成纤维细胞核内存在对P62和泛素抗体呈强阳性染色的包涵体。基因检测表明NOTCH2NLC等位基因中GGC重复序列的数量分别为14和134。因此，该患者被诊断为NIID。
目前尚无有效的治疗方法来延缓疾病进展。
我们报告了1例伴有亚临床周围神经病变的NIID病例，尽管患者未出现肢体麻木等感觉症状。肌电图可用于检测亚临床周围神经损伤。
