Study objectives

Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder, with complex and diverse of clinical manifestations characterized by eosinophilic hyaline inclusions in neurons and somatic cells. Due to the improvement in diagnostic methods, NIID is being increasingly diagnosed.

Methods

Herein, we reported three NIID cases, which were diagnosed by skin biopsy and FMR1 gene, after DWI showed the characteristic corticomedullary junction hyperintensity. Then we reviewed all the published cases of NIID in PubMed, which were diagnosed by the same method.

Results

We discussed 15 NIID cases, including three cases diagnosed by us. The average age was 63.4 ± 14.0 years. The average time from onset of symptom to diagnosis was 5.4 ± 7.9 years. Nine cases had dementia or cognitive impairment. Three cases presented with encephalitis. Three cases showed bladder dysfunction and two cases only presented with dizziness and headache. Two cases showed acute neurological deficit mimicking stroke. All cases were diagnosed by skin biopsy, after DWI showed abnormal corticomedullary junction hyperintensity. Ten cases showed inclusions in sweat gland cells, and seven cases in adipocytes, sweat gland cells, and fibroblasts. EMG was performed in five cases, four of whom had abnormal results, showing simultaneous involvement of motor and sensory nerves.

Conclusions

The results indicated that inclusions were more easily detected in sweat gland cells in skin biopsy. The early stage of NIID could only characterized by autonomic nerve function involvement. Combined autonomic nerve dysfunction might be another relatively common manifestation in NIID.

中文翻译：

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皮肤活检诊断神经元核内包涵体病的临床病理特征

学习目标

神经元核内包涵体病（NIID）是一种罕见的进行性神经退行性疾病，临床表现复杂多样，以神经元和体细胞中嗜酸性透明包涵体为特征。由于诊断方法的改进，NIID 越来越多地被诊断出来。

方法

在此，我们报告了 3 例 NIID 病例，这些病例在 DWI 显示特征性的皮质髓质连接处高信号后，通过皮肤活检和 FMR1 基因诊断。然后我们回顾了PubMed上所有发表的NIID病例，这些病例都是用同样的方法诊断出来的。

结果

我们讨论了 15 个 NIID 病例，其中包括我们诊断的 3 个病例。平均年龄为 63.4 ± 14.0 岁。从出现症状到确诊的平均时间为 5.4 ± 7.9 年。9 例患有痴呆症或认知障碍。三例出现脑炎。3例表现为膀胱功能障碍，2例仅表现为头晕头痛。两个病例表现出类似中风的急性神经功能缺损。所有病例均经皮肤活检确诊，DWI示皮质髓质连接处异常高信号。10 例在汗腺细胞中含有包涵体，在脂肪细胞、汗腺细胞和成纤维细胞中含有 7 例。5 例进行肌电图检查，其中 4 例结果异常，显示运动和感觉神经同时受累。

结论

结果表明，在皮肤活检中，汗腺细胞中更容易检测到夹杂物。NIID早期只能以自主神经功能受累为特征。联合自主神经功能障碍可能是 NIID 中另一个相对常见的表现。