Xu Luyao, Zhang Hongxia, Yuan Hanye, Xie Liwen, Zhang Junliang, Liang Zhigang
Department of Neurology, Yantai Yuhuangding Hospital Affiliated to Qingdao University, Yantai, China.
Front Neurosci. 2023 Aug 10;17:1247403. doi: 10.3389/fnins.2023.1247403. eCollection 2023.
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative illness with characteristic brain magnetic resonance imaging (MRI) manifestations: diffuse symmetric white-matter hyperintensities in lateral cerebral ventricle areas in fluid-attenuated inversion recovery (FLAIR) and high-intensity signals along the corticomedullary junction of the frontal-parietal-temporal lobes in diffusion weighted imaging (DWI). Here, we report a case of adult-onset NIID who was misdiagnosed with Susac syndrome (SS) due to unusual corpus callosum imaging findings.
A 39-year-old man presented with chronic headache, blurred vision, tinnitus, and numbness in the hands as initial symptoms, accompanied by cognitive slowing and decreased memory. Brain MRI revealed round hypointense lesions on T1-weighted imaging (T1WI) and hyperintense lesions on T2WI/FLAIR/DWI in the genu and splenium of the corpus callosum. An initial diagnosis of SS was made based on the presence of the SS-typical symptoms and SS-characteristic radiology changes. Furthermore, the patient's symptoms improved upon completion of a combined pharmacotherapy plan. However, no significant changes were evident 18 months after the brain MRI scan. Eventually, the patient was then diagnosed with NIID based on a skin biopsy and detection of expanded GGC (guanine, guanine, cytosine) repeats in the NOTCH2NLC gene.
The present NIID case in which there was simultaneous onset of altered nervous and visual system functioning and atypical imaging findings, the atypical imaging findings may reflect an initial change of NIID leukoencephalopathy.
神经元核内包涵体病（NIID）是一种罕见的神经退行性疾病，具有特征性的脑磁共振成像（MRI）表现：在液体衰减反转恢复序列（FLAIR）中侧脑室区域弥漫性对称性白质高信号，在扩散加权成像（DWI）中沿额颞顶叶皮质髓质交界区有高强度信号。在此，我们报告一例成人起病的NIID患者，因其胼胝体成像结果异常而被误诊为Susac综合征（SS）。
一名39岁男性以慢性头痛、视力模糊、耳鸣和手部麻木为首发症状，伴有认知迟缓及记忆力减退。脑部MRI显示胼胝体膝部和压部在T1加权成像（T1WI）上呈圆形低信号病变，在T2WI/FLAIR/DWI上呈高信号病变。基于典型的SS症状和SS特征性放射学改变，初步诊断为SS。此外，患者在完成联合药物治疗方案后症状有所改善。然而，脑部MRI扫描18个月后未见明显变化。最终，根据皮肤活检及NOTCH2NLC基因中扩展的GGC（鸟嘌呤、鸟嘌呤、胞嘧啶）重复序列检测，该患者被诊断为NIID。
在本NIID病例中，神经和视觉系统功能同时出现改变且有非典型成像表现，这些非典型成像表现可能反映了NIID白质脑病的初始变化。
