以中枢神经系统和周围神经系统损害为临床表现的多发对称性脂肪瘤病一例并文献复习

Central and peripheral neuropathy as the manifestations of multiple symmetric lipomatosis: one case report and review of literatures

目的总结多发对称性脂肪瘤病合并中枢神经系统和周围神经系统损害的临床和影像学特点,并探讨其发病机制。方法与结果男性患者,66岁,临床表现为双侧颌下部、颈部、肩部和上背部对称性无痛性脂肪团块2年,双下肢麻木无力6个月,反应迟钝、胡言乱语、右侧足底无痛性溃疡15 d。神经系统查体近记忆力、计算力和理解力下降,双侧锥体束征,右膝以下痛温觉消失、位置觉和震动觉减退。颈椎MRI可见双侧颈部对称性且无包膜的脂肪团块影;头部MRI未见明显异常。临床诊断为多发对称性脂肪瘤病合并中枢神经系统和周围神经系统损害。嘱患者戒酒,予甲钴胺、腺苷钴胺、叶酸、复方二氯醋酸二异丙胺、瑞舒伐他汀综合治疗。共住院14 d,随访3个月,症状部分消失。结论多发对称性脂肪瘤病是罕见的脂肪代谢障碍性疾病,可以合并中枢神经系统和周围神经系统损害,其发病机制尚待进一步研究。

Objective To summarize the clinical manifestations and imaging features of multiplesymmetric lipomatosis（MSL） combined with central and peripheral neuropathy, and to explore itspathogenesis. Methods and Results We reported a 66-year-old man with long-term history of alcoholism.Several large symmetric and painless lipomas were found in his bilateral lower jaw, shoulders, neck andupper back over the past 2 years. The patient suffered from numbness and weakness of both lowerextremities for 6 months, and sudden dullness, balderdash, even painless ulcer in the right sole for 15 d.Neurologic examination showed that his recent memory, calculation and understanding ability weredecreased, and it appeared bilateral pyramidal tract syndrome and ataxia. The algesia and thermesthesiabelow the right knee were lost, and topesthesia and pallesthesia were decreased. Cervical MRI showedcervical subcutaneous symmetric and non-encapsulated fat-intense mass. No significant abnormality wasfound in brain MRI. It was eventually diagnosed with MSL combined with central and peripheralneuropathy. The treatment included oral mecobalamine, cobamamide, folate, compound diisopropylaminedichloroacetate, rosuvastatin, and abstaining from alcohol. The patient was hospitalized for 14 d andfollowed up for 3 months, and the symptoms disappeared partially. Conclusions MSL is a rare diseasewith abnormal fat metabolism, which can result in both central and peripheral neuropathy. Thepathogenesis of MSL, especially the cause of brain damage in MSL needs to be further explored.