小脑发育不良性神经节细胞瘤合并Cowden综合征1例报告并文献复习  

Lhermitte-Duclos disease with Cowden syndrome(a case report and literature review)

作　　者：张达旻 唐莉莉 朱正权[1] 夏海成[1] ZHANG Da-min;TANG Li-li;ZHU Zheng-quan(Department of Neurosurgery,The Third Affiliated Hospital of Xinjiang Medical University,Urumqi 830011,China;不详)

机构地区：[1]新疆医科大学第三附属医院神经外科,乌鲁木齐830011 [2]新疆医科大学研究生学院

出　　处：《临床神经外科杂志》2021年第5期557-561,共5页Journal of Clinical Neurosurgery

摘　　要：目的探讨小脑发育不良性神经节细胞瘤(LDD)合并Cowden综合征的临床、影像学、组织病理学特征。方法对1例LDD合并Cowden综合征患者的临床资料进行回顾性分析,并复习相关文献。结果手术中见畸形生长、粗大的小脑沟回样病变结构,将病变部分切除。病理学检查示,小脑分子层过度髓鞘化增厚,颗粒细胞层见节细胞增生;免疫组化结果:胶质纤维酸性蛋白(GFAP)胶质纤维背景(+)、GFAP肿瘤细胞(-)。结论LDD常合并有Cowden综合征的表现,具有典型的影像学特征及独特的病理学表现。对于有明显颅内压增高及脑积水的患者须积极手术治疗。应长期随访患者及其家属,进行全身系统检查,以排除Cowden综合征常见恶性肿瘤的发生。Objective To explore the clinical,imaging and histopathological features of Lhermitte-Duclos disease(LDD)with Cowden syndrome.Method The clinical data of a case of LDD with Cowden syndrome was analyzed retrospectively,and related literatures were reviewed.Results During the operation,thick cerebellar sulcus gyrus-like lesions that grown abnormally were found,and the lesions were partially removed.Pathological examination showed that the myelin sheath of the cerebellar molecular layer was thickened and ganglion cells proliferated in granular cell layer.The immunohistochemical results were glial fibrillary acidic protein(GFAP),glial fiber background(+)and GFAP tumor cells(-).Conclusions LDD often combines with Cowden syndrome,with typical imaging features and unique pathological manifestations.Patients with obvious intracranial hypertension and hydrocephalus should be actively treated by surgery.Patients and their family members should be followed up for a long time,and systemic examination should be carried out to exclude the occurrence of common malignant tumors in Cowden syndrome.

关 键 词：小脑发育不良性节细胞瘤 Cowden综合征 MRI 病理学 

分 类 号：R739.41[医药卫生—肿瘤]