小脑发育不良性神经节细胞瘤五例并文献复习

Dysplastic gangliocytoma of the cerebellum(Lhermitte-Duclos disease):5 cases and literature review

目的探讨小脑发育不良性神经节细胞瘤(Lhermitte-Duclos病,LDD)的临床表现、治疗、预后以及与Cowden综合征的关系。方法对5例经手术和病理证实的LDD患者的临床资料进行回顾性分析并文献复习。结果 LDD主要临床表现为颅内压增高和步态共济失调,其在MRI表现为具有特征性的平行条纹状结构。5例肿瘤镜下全切除2例,近全切除3例。术后无明显手术并发症,无死亡病例。3例患者伴有Cowden综合征的其他病变。5例患者平均随访4年,4例恢复正常工作,1例死于糖尿病并发症,未见肿瘤复发。结论 LDD术前诊断需根据病史、神经影像学检查综合分析,多可明确诊断。手术治疗是主要的治疗方法,可取得良好的疗效。患者可合并Cowden综合征,应行全身检查,以便早期发现其他部位疾病,并需长期随访。

Objective Dysplastic gangliocytoma of the cerebellum,or Lhermitte-Duclos disease(LDD),is an unusual hamartomatous lesion that can cause progressive mass effects in the posterior fossa.The objective of the study is to discuss clinical characteristics,microsurgical treatment,prognosis of LDD,and its relationship with Cowden Syndrome.Methods The hospital data of 5 patients who had undergone microsurgery and were pathologically diagnosed as LDD were reviewed.Results The main clinical presentations were raised intracranial pressure and gait ataxia.The disease revealed unique appearance on MRI with parallel linear striated pattern.The operations consisted of total resection in 2,subtotal resection in 3.There were no increased neurological deficits,and no postoperative deaths.3 out of 5 patients had diseases associated with Cowden Syndrome.5 patients were followed up with a mean of 4 years,of which 4 lived a normal life expect for 1 patient died of diabetes mellitus complication.There was no patient with recurrent tumors in the series.Conclusions Preoperative diagnosis of LDD may be presumed on the basis of case history and neuroimaging examinations.Surgical resection is the principal treatment for LDD and can get the good prognosis,and need long-term follow-up postoperatively.