小脑发育不良性节细胞瘤与Cowden综合征:6例临床分析

目的分析小脑发育不良性节细胞瘤（LDD）的临床、影像学和病理学特征,探讨LDD与Cowden综合征（CS）之间的关系。方法回顾6例LDD患者的临床、影像学和病理学资料,根据国际CS协会（ICC）标准体检,并与1例CS患者比较。结果患者发病年龄23-56岁,平均39岁,常见症状为颅内压增高、小脑征及颅神经麻痹表现。CT示后颅等密度和低密度占位,部分钙化,MRI表现为特征性的“虎纹征”;病理特征为小脑层状结构紊乱,颗粒细胞和浦肯野细胞减少,而异常神经节细胞增多。患者术后预后多良好。随访到的5例LDD患者中3例（60％）符合CS诊断标准,1例CS患者未合并LDD。结论LDD为小脑的少见良性病变,MRI为最佳影像学诊断手段,全切手术为首选治疗方法。LDD可能为CS在中枢神经系统的表现。

Dysplastic gangliocytoma of cerebellum and Cowden syndrome: clinical study in six patients

Purpose To analyze the clinical, neuroimging and pathological features of dysplastic gan-gliocytoma of cerebellum (Lhermitte-Duclos disease, LDD) and to elucidate the relationship between LDD and Cowden syndrome (CS). Methods Clinical, neuroimaging and pathological records of six patients with LDD were retrospectively reviewed and clinical studies were prospectively performed for detection of CS manifestations. The International Cowden Consortium (ICC) criteria were applied for the diagnosis of CS. Comparison between six patients with LDD and one patient with CS was conducted. Results The onset of LDD ranged in age from 23 to 56 years old, with an average of 39 years. The usual symptoms were increase in intracranial pressure, cerebellar symptoms and cranial nerve palsies. CT scans suggested a posterior fossa lesion, iso- and hypodense, partially calcified. MRI demonstrated typical "tiger-striped" sign. The pathology was characterized by disarrangement of the normal cerebellar laminar cytoarchitecture, with replacement of the Purkinje and granule cells by abnormal ganglionic neurons. The postoperative prognosis was usually favorable. Three of the five (60%) patients with LDD were also diagnosed of CS; The patient with CS was not found any manifestation of LDD. Conclusions LDD is a rare benign entity of cerebrum. MRI is an optimal diagnostic modality. The gross total surgical excision is the best treatment of choice. LDD is possibly a neurological manifestion of CS.