非典型临床表现的成人型神经元核内包涵体病：幻听、妄想与急性肌力下降

Adult-onset neuronal intranuclear inclusion disease with atypical clinical manifestations: auditory hallucinations, delusions, and acute muscle strength reduction

摘要:

该文报道了2例成人型神经元核内包涵体病（NIID）患者的临床表现和影像学特征。患者年龄分别为70岁和72岁，其中，1例以幻听、妄想等精神症状为首发症状，另1例以急性意识障碍与下肢瘫痪为首发症状。头部磁共振成像均显示双侧额、顶、枕叶皮髓质交界区对称性曲线样弥散加权成像高信号“绸带征”，其中1例随访中出现小脑“鸡冠花样”高信号，提示疾病进展。基因检测1例显示NOTCH2NLC基因GGC重复次数为93次（全突变范围），支持NIID诊断。NIID的临床表现异质性强，易被误诊，结合特征性影像与基因检测可显著提高诊断准确性。建议对疑似患者尽早进行影像学及基因检测，必要时辅以皮肤活检，以实现早期诊断与早期干预。

Abstract:

This article reports the clinical manifestations and imaging features of two patients with adult-onset neuronal intranuclear inclusion disease （NIID）. The two patients were aged 70 and 72 years， respectively. One patient had the initial symptoms of mental symptoms including auditory hallucinations and delusions， while the other patient had the initial symptoms of acute disturbance of consciousness and lower limb paralysis. Brain magnetic resonance imaging showed symmetric curvilinear hyperintensities along the corticomedullary junction in the frontal， parietal， and occipital lobes on diffusion weighted imaging in both cases， which was known as the “ribbon sign”， and one patient developed “cockscomb-like” hyperintensities in the cerebellum during follow-up， which suggested disease progression. Genetic testing identified 93 GGC repeats in the NOTCH2NLC gene in one patient， confirming full-penetrance mutation and supporting the diagnosis of NIID. NIID shows strong heterogeneity in clinical manifestations and is easily misdiagnosed， and combination with imaging features and genetic testing can significantly enhance diagnostic accuracy. Imaging examination and genetic testing should be performed for suspected patients as early as possible， and skin biopsy can be performed when necessary to achieve early diagnosis and intervention.