Sakurai Takeo, Harada Seiko, Wakida Kenji, Yoshida Mari, Nishida Hiroshi
Department of Neurology, Gifu Prefectural General Medical Center.
Rinsho Shinkeigaku. 2016 Jun 22;56(6):439-43. doi: 10.5692/clinicalneurol.cn-000875. Epub 2016 May 14.
A 66-year-old woman suddenly experienced unsteadiness while walking; she had experienced the same symptom before, but it had resolved immediately. Her neurological findings showed cerebellar ataxia, absence of tendon reflex in the extremities, and orthostatic hypotension. MRI with DWI of the brain showed linear high-intensity areas at the white matter just below the cerebral cortex. Therefore, we suspected neuronal intranuclear inclusion disease (NIID). In her cutaneous skin biopsy, intranuclear inclusion bodies, which tested positive for an anti-ubiquitin antibody and anti-p62 antibody, were observed in sweat gland cells and fibroblasts; therefore, we diagnosed her with NIID. As no one in her family had similar symptoms, this was a case of sporadic NIID. Adult-onset NIID with the main presentation of cerebellar ataxia is rare; in our case, this repeated acute-onset symptom was a unique manifestation of the condition.
一名66岁女性在行走时突然感到不稳；她之前也曾出现过相同症状，但症状随即消失。她的神经系统检查结果显示为小脑共济失调、四肢腱反射消失以及体位性低血压。脑部MRI及弥散加权成像（DWI）显示大脑皮质下方白质有线性高信号区。因此，我们怀疑为神经元核内包涵体病（NIID）。在她的皮肤活检中，在汗腺细胞和成纤维细胞中观察到核内包涵体，其抗泛素抗体和抗p62抗体检测呈阳性；因此，我们诊断她患有NIID。由于她的家族中没有人有类似症状，这是一例散发性NIID。以小脑共济失调为主要表现的成人型NIID较为罕见；在我们的病例中，这种反复急性发作的症状是该疾病的独特表现。
