Ueda Ryota, Koizumi Takashi, Mizuno Toshiki, Nakagawa Masanori
Department of Neurology, North Medical Center Kyoto Prefectural University of Medicine.
Department of Neurology and Stroke Treatment, Kyoto Daiichi Red Cross Hospital.
Rinsho Shinkeigaku. 2022 May 31;62(5):369-374. doi: 10.5692/clinicalneurol.cn-001689. Epub 2022 Apr 26.
A 63-year-old woman with no medical history of note developed acute-onset abnormal behavior persisting for one week. Mild disturbance of consciousness was noted on physical examination. Her blood and spinal fluid test results were normal. On brain MRI, diffusion-weighted image showed a high-intensity signal in U-fiber areas of the bilateral frontal lobes, and fluid-attenuated inversion recovery showed white matter lesions. We suspected neuronal intranuclear inclusion disease (NIID) based on brain MRI findings; therefore, we performed a skin biopsy and genetic test. Pathological findings of the skin biopsy revealed the presence of anti-p62-positive intranuclear inclusion bodies in fibroblasts and adipocytes. The genetic test showed GGC repeat expansion of NOTCH2NLC, but no mutation of FMR1. Thus, we diagnosed her with NIID. The acute-onset abnormal behavior was improved by levetiracetam. The present case indicates that patients with a high-intensity area in the corticomedullary junction should undergo a skin biopsy, even though they may present with non-specific symptoms such as acute-onset abnormal behavior.
一名63岁无显著病史的女性出现急性发作的异常行为，持续一周。体格检查发现轻度意识障碍。她的血液和脑脊液检查结果正常。脑部MRI检查显示，扩散加权成像显示双侧额叶U纤维区呈高信号，液体衰减反转恢复序列显示白质病变。基于脑部MRI结果，我们怀疑为神经元核内包涵体病（NIID）；因此，我们进行了皮肤活检和基因检测。皮肤活检的病理结果显示成纤维细胞和脂肪细胞中存在抗p62阳性核内包涵体。基因检测显示NOTCH2NLC基因的GGC重复扩增，但FMR1基因无突变。因此，我们诊断她患有NIID。左乙拉西坦使急性发作的异常行为得到改善。本病例表明，即使表现为急性发作的异常行为等非特异性症状，皮质髓质交界处出现高强度区域的患者也应进行皮肤活检。
