小脑发育不良性节细胞瘤/Lhermitte-Duclos病6例临床病理分析并文献复习

Dysplastic cerebellar gangliocytoma/Lhermitte-Duclos disease:report of 6 cases and review of the literatures

目的探讨小脑发育不良性节细胞瘤/Lhermitte-Duclos病(Lhermitte-Duclos disease,LDD)的临床病理学特征、诊断及鉴别诊断。方法对6例LDD进行临床病理学分析,行免疫组化SP法染色,并结合文献对该病的临床表现、组织学形态、免疫表型及预后进行分析。结果 6例患者年龄23~56岁,平均34岁,临床症状表现为颅内压增高伴或不伴小脑体征等。MRI表现为特征性"虎斑征"。光镜下表现为局部小脑结构紊乱,颗粒细胞及浦肯野细胞减少并代以多量异常神经节细胞。随访2例5~8年复发,其余4例恢复良好。结论 LDD属于小脑的罕见原发性良性病变,诊断依靠影像学和病理组织学检查,治疗方法首选完整切除。

Purpose To investigate the clinicopthologic features of dysplastie cerebellar gongliocytoma/Lhermitte-Duclos disease （LDD） and to discuss the diagnosis and differential di- agnosis of the tumor. Methods Histopathological characteristics and immunohistoehemical of SP results of 6 cases of LDD were studied and the relevant literatures were reviewed. Results 6 cases ranged in age from 23 to 56 years old, with an average of 34 years. The clinical manifestations were intracranial hypertension with or without cerebellar signs. MRI manifestations were characteristic by ＂tiger spots＂. Histology showed local cerebellar structure disorders, granulocytes and Purkinje cells decreased and replaced by a large number of abnormal ganglion cells. 2 cases were followed up for 5 to 8 years recurrence, the remaining 4 cases recovered well. Conclusion LDD is a rare primary benign lesions of the cerebellum. Diagnosis depends on imaging and histopathological examination. The gross total resection is the best treatment choice.