一例成人型NIID影像分析

A Case of Adult-Onset NIID: Imaging Analysis

摘要: 目的：探讨成人型神经元核内包涵体病(NIID)的临床及影像学特征，提高对该病的认识与诊断水平。方法：回顾性分析1例确诊为成人型NIID患者的临床资料、影像学表现及基因检测结果，并结合国内外相关文献进行复习。结果：患者男性，72岁，以进行性记忆力减退及行走不稳隐匿起病。头颅MRI显示：1) 双侧大脑半球皮层下“绸带征”；2) 双侧放射冠、半卵圆中心、侧脑室周围广泛融合性T2WI/FLAIR高信号；3) 双侧小脑蚓部对称性FLAIR高信号。结合典型影像学特征与鉴别诊断结果，临床确诊为NIID。文献复习进一步证实，DWI皮髓质交界区“绸带征”、广泛脑白质病变及小脑特征性高信号是NIID的核心影像学标志，对诊断具有重要提示价值；FXTAS是与NIID临床表现及影像学最为相似的疾病，基因检测是二者鉴别的关键手段。结论：NIID临床表现多样，影像学特征对早期识别和诊断至关重要。对于中老年起病、原因不明的进行性认知障碍合并白质脑病患者，应关注DWI皮髓质交界区高信号，并及时进行NOTCH2NLC及FMR1基因检测以明确诊断并指导鉴别。

Abstract: Objective: To analyze the clinical and imaging features of adult-onset neuronal intranuclear inclusion disease (NIID) and improve diagnostic accuracy. Methods: Clinical data, imaging findings, and genetic results of one patient with adult-onset NIID were retrospectively analyzed, and relevant literature was reviewed. Results: A 72-year-old male presented with progressive memory decline and gait instability. Cranial MRI revealed: 1) Bilateral subcortical “ribbon sign” on DWI; 2) Extensive confluent T2WI/FLAIR hyperintensities in periventricular white matter; 3) Symmetrical FLAIR hyperintensities in the cerebellar vermis. Based on typical imaging features and differential diagnosis, the patient was clinically diagnosed with NIID. Literature review confirmed that the DWI “ribbon sign”, extensive white matter lesions, and characteristic cerebellar hyperintensities are key imaging markers for NIID. FXTAS is the closest mimic, and genetic testing is essential for differentiation. Conclusion: Imaging features are crucial for early NIID recognition. For middle-aged/elderly patients with unexplained cognitive impairment and leukoencephalopathy, DWI corticomedullary junction hyperintensity should raise suspicion, and NOTCH2NLC/FMR1 genetic testing is recommended for definitive diagnosis.