■神经核内包涵体病(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:侧脑室区域的弥漫性对称白质高信号在液体衰减反转恢复(FLAIR)和沿着额-顶-颞叶皮质髓质交界处的高强度信号在弥散加权成像(DWI)中。这里,我们报告1例成人发病的NIID,该患者因异常的call体影像学表现而被误诊为Susac综合征(SS).
■一名39岁男子出现慢性头痛,视力模糊,耳鸣,手麻木是最初的症状,伴随着认知减慢和记忆力下降。脑部MRI在T1加权成像(T1WI)上显示圆形低信号性病变,并且在T2WI/FLAIR/DWI上显示出call体的膝和脾的高强度病变。根据SS典型症状和SS特征性放射学变化的存在,对SS进行了初步诊断。此外,患者的症状在完成联合药物治疗计划后得到改善。然而,脑部MRI扫描后18个月无明显变化.最终,然后根据皮肤活检和扩大的GGC(鸟嘌呤,鸟嘌呤,胞嘧啶)在NOTCH2NLC基因中重复。
■本NIID病例同时出现神经和视觉系统功能改变和不典型影像学表现,不典型的影像学表现可能反映了NIID白质脑病的初始改变.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.