CAJ | 학술논문

目的探讨小脑发育不良性神经节细胞瘤和Cowden综合征的临床特点、治疗方法和两者之间的关系.方法随访2001年8月至2009年12月收治的7例患者,随访时间为5-105个月(平均36.6个月).结果 7例患者中6例行手术切除肿瘤,另1例只行脑室-腹腔分流术.5例肿瘤全切,1例大部切除.4例伴有Cowden综合征的患者主要伴发疾病有面部多发斑丘疹、肢端角化症、子宫内膜癌、子宫肌瘤、乳腺瘤、乳腺纤维囊性增生症、甲状腺多发结节等.1例肿瘤大部切除患者术后2年死于糖尿病酮症酸中毒.结论小脑发育不良性神经节细胞瘤具有典型的MRI表现,多数可在术前明确诊断.手术切除肿瘤是其主要的治疗方法.对于成年患者,合并Cowden综合征的可能性极大,需行全面检查,以早期发现可能的合并疾病.
목적 탐토소뇌발육불량성신경절세포류화Cowden종합정적림상특점、치료방법화량자지간적관계.방법 수방2001년8월지2009년12월수치적7례환자,수방시간위5-105개월(평균36.6개월).결과 7례환자중6례행수술절제종류,령1례지행뇌실-복강분류술.5례종류전절,1례대부절제.4례반유Cowden종합정적환자주요반발질병유면부다발반구진、지단각화증、자궁내막암、자궁기류、유선류、유선섬유낭성증생증、갑상선다발결절등.1례종류대부절제환자술후2년사우당뇨병동증산중독.결론 소뇌발육불량성신경절세포류구유전형적MRI표현,다수가재술전명학진단.수술절제종류시기주요적치료방법.대우성년환자,합병Cowden종합정적가능성겁대,수행전면검사,이조기발현가능적합병질병.
Objective To describe the clinical features, diagnosis, treatment and the association between dysplastic cerebellar gangliocytoma (Lhermitte- Duclos disease, LDD) and Cowden Syndrome.Methods Out of 7 LDD patients admitted to Tiantan Hospital from August 2001 to December 2009, 6 patients had undergone tumor resection.Medical records and radiological images of each case were reviewed.Follow - up period ranged from 5 months to 105 months.Results MRI images of all patients were unique to make the diagnosis of LDD preoperatively.Tumor removal was performed in 6 out of 7 patients.Ventriculoperitoneal shunt without tumor removal was performed for one patient.Tumor removal was gross total in 5 patients, subtotal in one patient.4 out of 6 adult LDD patients had diseases which could be found in Cowden Syndrome such as facial multiple macula or papules, acral keratoses, fibroblastic disease, endometrial carcinoma, uterine fibroid, et al.One patient died of complication of diabetes mellitus two years later.Conclusions MRI images of LDD are unique for preoperative diagnosis in almost every patient Tumor removal is the only effective treatment method.Most patients could recover well postoperatively.For adult LDD patients, the possibility combined with Cowden syndrome is very great.Patients need thorough examinations to rule out other diseases of Cowden syndrome.