原发性胼胝体变性1例

Primary Degeneration of Corpus Callosum: A Case Report

摘要: 目的：探讨1例罕见的原发性胼胝体变性病例，旨在提高临床医生对原发性胼胝体变性的识别度，提升诊断准确性，降低该病的漏诊和误诊率。方法：回顾性分析1例62岁女性，原发性胼胝体变性患者的临床和影像资料，与大多数原发性胼胝体变性患者慢性酒精中毒的病史不同，此例患者仅少量饮酒，并非长期酗酒者，其主要临床表现为抽搐、意识不清；影像检查MRI示：胼胝体、双侧大脑半球白质区及白质纤维束见片状、大片状稍长T1、稍长T2信号，T2-Flair序列呈稍高信号，DWI序列呈稍高信号，ADC图呈稍低信号，增强扫描未见明显强化，边界模糊。符合原发性胼胝体变性影像改变。结合病史及MRI等检查，考虑原发性胼胝体变性可能。结果：入院后予激素、控制抽搐、改善认知、降同型半胱氨酸、营养神经、维持水电解质平衡等对症支持治疗，一周后患者病情好转，行动力较前改善，临床最终诊断为原发性胼胝体变性可能性大。结论：原发性胼胝体变性的MRI表现具有一定特征性，这对于临床医生评估病情、诊断疾病和制定治疗方案具有重要意义。

Abstract: Objective: To explore a rare case of primary corpus callosum degeneration, aiming to enhance clinicians’ recognition of this condition, improve diagnostic accuracy, and reduce the rate of missed and misdiagnosis. Methods: A retrospective analysis was conducted on a 62-year-old female patient with primary corpus callosum degeneration. Unlike most patients with primary corpus callosum degeneration who have a history of chronic alcoholism, this patient only consumed a small amount of alcohol and was not a long-term heavy drinker. Her main clinical manifestations were convulsions and unconsciousness. MRI showed patchy and large patchy slightly long T1 and slightly long T2 signals in the corpus callosum, bilateral cerebral hemispheres white matter areas, and white matter fiber tracts. The T2-Flair sequence showed slightly high signals, the DWI sequence showed slightly high signals, and the ADC map showed slightly low signals. There was no obvious enhancement on enhanced scanning, and the boundaries were blurred. These findings were consistent with the imaging changes of primary corpus callosum degeneration. Combined with the medical history and MRI and other examinations, primary corpus callosum degeneration was considered possible. Results: After admission, the patient was treated with hormones, convulsion control, cognitive improvement, homocysteine reduction, nerve nutrition, and maintenance of water and electrolyte balance. The patient’s condition improved a week later, and her mobility was better than before. The final clinical diagnosis was highly likely to be primary corpus callosum degeneration. Conclusion: The MRI manifestations of primary corpus callosum degeneration have certain characteristics, which are of great significance for clinicians to assess the condition, diagnose the disease, and formulate treatment plans.