小脑发育不良性节细胞瘤合并左顶叶海绵状血管瘤1例报道及文献复习

Dysplastic gangliocytoma with left parietal cavernous hemangiomas in cerebellum: one case report and review of the literature

目的 探讨小脑发育不良性节细胞瘤 (LDD)的临床病理特点。方法 对 1例小脑发育不良性节细胞瘤合并左顶叶海绵状血管瘤进行光镜、组织化学和免疫组化观察并结合文献分析。结果 小脑叶片增厚 ,板层结构异常 ,皮质分子层增生。颗粒细胞层和蒲肯野细胞层被异常、呈平行排列的有髓纤维以及结构紊乱和异常的神经元所取代。网织染色显示瘤细胞间无网状纤维。免疫组化标记CgA、NF、Syn、vimentin和S 10 0蛋白均 (+) ,Ki 6 7和GFAP(- )。 结论 小脑发育不良性节细胞瘤为良性肿瘤 ,预后良好。目前对肿瘤性质是错构瘤还是真性肿瘤存有争议。诊断依赖于MRI、组织病理学和免疫组化标记。LDD是Cowden综合征的主要中枢神经系统表现 ,对本病患者应作全面的系统检查 ,以除外Cowden综合征。颅内海绵状血管瘤少见 ,病因不明 ,与Lhermitte Duclos病或Cowden综合征之间是否相关 。

Purpose To investigate the clinicopathological characteristics of dysplastic gangliocytoma in the cerebellum (Lhermitte-Duclos disease, LDD). Methods One case of LDD associated with cavernous hemangioma was analyzed with light microscopic observation, histochemical and immunohistochemical staining, and the related literature was reviewed. Results A diffuse enlargement of the cerebellum folia and abnormality of cerebellar parallel layer structure as well as hyperplasia of molecular layer of cortex were observed. The regular granular cell and Purkinje cell layers of the cerebellar cortex were replaced by an outer layer of abnormally myelinated axon bundles in parallel arrays, and by a widened inner layer composed of an accumulation of dysplastic and disorganized neurons. There was no reticulin fiber between tumor cells according to reticulin staining. Immunohistochemically, the tumor cells were positive for CgA, NF, Syn, vimentin and S-100, but negative for Ki-67 and GFAP. Conclusions Dysplastic gangliocytoma of the cerebellum is a benign neoplasm, and has a preferable prognosis. It remains unclear whether LDD is hamartomatous or neoplastic in nature. The diagnosis of LDD is based on its MRI, pathological morphology and immunohistochemical staining. More recently, researches indicate that LDD is the major central nervous systemic manifestation of Cowden's syndrome. Anyone diagnosed LDD should examine the patient thouroughly, in order to exclude Cowden's syndrome. Intracranial cavernous hemangioma is also rare, whose histogenesis is still unclear. Its pathogenesis may be related to abnormalities of vascular development in the embryonic period. Whether there is any association between the diseases needs further studies.