Abstract:

Background  Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) is benign tumor with atypical clinical manifestations and relatively rare incidence. This paper reported one case of dysplastic cerebellar gangliocytoma and reviewed related literatures, so as to explore its clinical and pathological characteristics and improve the diagnosis and differential diagnosis of dysplastic cerebellar gangliocytoma.  Methods and Results  Head MRI of a 34-year-old female patient showed round space-occupying lesion in right cerebellar hemisphere. The lesion was totally removed by operation Intraoperative findings: the lesion had widened gyri on the surface with yellow or white color; it was similar to brain tissue, soft, rich blood supply, nonencapsuled, and was not adhered to surrounding brain tissues. Histologically, granular layers and Purkinje cell layers were replaced by parallel arranged abnormal myelinated fibers and abnormal neurons in disordered structures associated with vascular malformation. Immunohistochemical staining showed the cytoplasm of abnormal neuronal cells was positive for neuronal nuclei (NeuN), synaptophysin (Syn), S-100 protein (S-100) and neuron-specific enolase (NSE); glial fibers were positive for glial fibrillary acidic protein (GFAP); nerve fibers were positive for neurofilament protein (NF). Ki-67 labeling index was less than 1% . Final pathological diagnosis was dysplastic cerebellar gangliocytoma. The patient was in deep coma after operation, and was discharged after 24 d, but was lost after discharge.  Conclusions  Dysplastic cerebellar gangliocytoma is a rare, benign tumor, having certain specific imaging features. Early diagnosis and surgical treatment is necessary, and it should be differentiated from gangliocytoma, ganglioglioma and low-grade astrocytoma. The systemic examination for patients with dysplastic cerebellar gangliocytoma and their family members is needed for the detection of pathological changes in other organs or other tumors.

Key words: Hamartoma syndrome, multiple, Cerebellum, Immunohistochemistry, Pathology

摘要：

研究背景 小脑发育不良性节细胞瘤是小脑良性肿瘤，临床表现不典型，相对罕见。本文报告1 例小脑发育不良性节细胞瘤患者，通过复习相关文献，探讨其临床病理学特征，以期提高诊断与鉴别诊断能力。方法与结果 女性患者，34 岁，头部MRI 显示右侧小脑半球类圆形占位性病变。手术全切除病变，术中可见病变表面脑回增宽，呈黄白色，似脑组织样，质地略软，血供丰富，无包膜，与周围脑组织无粘连。组织学形态，颗粒细胞层和浦肯野细胞层被平行排列的异常有髓纤维和结构紊乱的异常神经元取代，伴血管畸形。免疫组织化学染色，异常神经元胞质表达神经元核抗原、突触素、S-100 蛋白和神经元特异性烯醇化酶，胶质纤维背景表达胶质纤维酸性蛋白，神经纤维表达神经微丝蛋白，Ki-67抗原标记指数< 1%。最终病理诊断为小脑发育不良性节细胞瘤。术后仍呈深昏迷，共住院24 d，出院后失访。 结论 小脑发育不良性节细胞瘤临床相对罕见，组织学形态呈良性，影像学表现具有一定特异性，早期诊断并手术治疗十分必要，应注意与节细胞瘤、节细胞胶质瘤和低级别星形细胞瘤相鉴别。小脑发育不良性节细胞瘤患者及其家属应进行系统检查，关注有无其他器官或系统疾病或肿瘤。

关键词: 错构瘤综合征, 多发性, 小脑, 免疫组织化学, 病理学