Department of Neurology, the First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Yong Wai Zheng Street 17#, Nanchang, 330006, People's Republic of China.
Queen Mary College, Nanchang University, Nanchang, China.
Neurol Sci. 2024 Sep;45(9):4501-4511. doi: 10.1007/s10072-024-07492-x. Epub 2024 Mar 26.
Neuronal intranuclear inclusion disease (NIID) exhibited significant clinical heterogeneities. However, the clinical features, radiographic changes, and prognosis of patients with encephalitis-like NIID have yet to be systematically elucidated.
Clinical data including medical history, physical examination, and laboratory examinations were collected and analyzed. Skin and sural nerve biopsies were conducted on the patient. Repeat-primed PCR (RP-PCR) and fluorescence amplicon length PCR (AL-PCR) were used to detect the expansion of CGG repeat. We also reviewed the clinical and genetic data of NIID patients with cortical enhancement.
A 54-year-old woman presented with encephalitis-like NIID, characterized by severe headache and agitative psychiatric symptoms. The brain MRI showed cortical swelling in the temporo-occipital lobes and significant enhancement of the cortical surface and dura, but without hyperintensities along the corticomedullary junction on diffusion-weighted image (DWI). A biopsy of the sural nerve revealed a demyelinating pathological change. The intranuclear inclusions were detected in nerve and skin tissues using the p62 antibody and electron microscopy. RP-PCR and AL-PCR unveiled the pathogenic expansion of CGG repeats in the NOTCH2NLC gene. A review of the literature indicated that nine out of the 16 patients with cortical lesions and linear enhancement exhibited encephalitis-like NIID.
This study indicated that patients with encephalitis-like NIID typically exhibited headache and excitatory psychiatric symptoms, often accompanied by cortical edema and enhancement of posterior lobes, and responded well to glucocorticoid treatment. Furthermore, some patients may not exhibit hyperintensities along the corticomedullary junction on DWI, potentially leading to misdiagnosis.
神经元核内包涵体病（NIID）表现出明显的临床异质性。然而，脑炎样 NIID 患者的临床特征、影像学改变和预后尚未得到系统阐明。
收集并分析了包括病史、体格检查和实验室检查在内的临床数据。对患者进行皮肤和腓肠神经活检。采用重复引物 PCR（RP-PCR）和荧光扩增子长度 PCR（AL-PCR）检测 CGG 重复扩增。我们还回顾了伴有皮质增强的 NIID 患者的临床和遗传数据。
一名 54 岁女性表现为脑炎样 NIID，特征为严重头痛和激越性精神症状。脑 MRI 显示颞枕叶皮质肿胀，皮质表面和硬脑膜明显增强，但弥散加权成像（DWI）上未见沿皮质髓质交界处的高信号。腓肠神经活检显示脱髓鞘病变。使用 p62 抗体和电子显微镜在神经和皮肤组织中检测到核内包涵体。RP-PCR 和 AL-PCR 揭示了 NOTCH2NLC 基因中 CGG 重复的致病性扩增。文献复习表明，16 例皮质病变和线性增强患者中有 9 例表现为脑炎样 NIID。
本研究表明，脑炎样 NIID 患者通常表现为头痛和兴奋性精神症状，常伴有皮质水肿和后叶增强，对糖皮质激素治疗反应良好。此外，一些患者 DWI 上可能没有沿皮质髓质交界处的高信号，可能导致误诊。
