Department of Neurology, Lanzhou University Second Hospital, Lanzhou, 730000, Gansu, China.
Department of Neurology, Beijing Hospital, National Center of Gerontology, Beijing, 100730, China.
BMC Neurol. 2020 Apr 8;20(1):125. doi: 10.1186/s12883-020-01712-5.
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative condition characterized by the loss of neurons and the presence of eosinophilic nuclear inclusions in the central and peripheral nervous system, skin and visceral organs. In this paper, we present a case of NIID with recurrent encephalitic attacks that remained stable and nonprogressive for seven years; no such case has previously been reported.
A 63-year-old female was hospitalized due to light-headedness, vomiting, unstable gait and cognitive impairment. Seven years prior, she had experienced an episode of light-headedness, central facial paralysis, unstable gait, aphasia, nausea, vomiting and loss of consciousness. She regained consciousness within 12 h, and her other symptoms were completely resolved within one week. During the present hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity on diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. We reviewed the patient's previous MRI results and found that she had also had high signal intensity on DWI of the bilateral frontal grey matter-white matter junction seven years prior. In the intervening seven years, the high signal intensity in the frontal lobes had spread along the grey matter-white matter junction, but the deep white matter remained unaffected. Skin biopsy was performed, and intranuclear inclusions were found in adipocytes, fibroblasts and sweat gland cells. GGC repeat expansions in the NOTCH2NLC (Notch 2 N-terminal like C) gene confirmed the diagnosis of NIID. She received supportive treatment such as nutrition support therapy and vitamin B and C supplementation, as well as symptomatic treatment during hospitalization. The patient's symptoms were completely relieved within one week.
This is a detailed report of a case of NIID with multiple reversible encephalitic attacks, diagnosed by clinical symptoms, intranuclear inclusions, characteristic DWI signals, and genetic tests.
神经元核内包涵体病（NIID）是一种罕见的神经退行性疾病，其特征是中枢和周围神经系统、皮肤和内脏器官神经元丧失和嗜酸性核内包涵体的存在。本文报告了一例复发性脑炎样发作的 NIID 病例，该病例在七年中保持稳定且非进行性；以前没有报告过这种情况。
一名 63 岁女性因头晕、呕吐、步态不稳和认知障碍住院。七年前，她曾经历过头晕、中枢性面瘫、步态不稳、失语、恶心、呕吐和意识丧失。她在 12 小时内恢复意识，其他症状在一周内完全缓解。本次住院期间，脑磁共振成像（MRI）检查发现双侧额部灰质-白质交界处弥散加权成像（DWI）高信号。我们复习了患者以前的 MRI 结果，发现她在七年前也有双侧额部灰质-白质交界处 DWI 高信号。在这七年中，额叶的高信号强度沿着灰质-白质交界处扩散，但深部白质不受影响。行皮肤活检，发现脂肪细胞、成纤维细胞和汗腺细胞内有核内包涵体。NOTCH2NLC（Notch 2 N 端样 C）基因 GGC 重复扩增证实了 NIID 的诊断。她在住院期间接受了营养支持治疗、维生素 B 和 C 补充以及对症治疗，症状在一周内完全缓解。
这是一例具有多种可复发性脑炎样发作的 NIID 详细报告，通过临床症状、核内包涵体、特征性 DWI 信号和基因检测进行诊断。
