Hennekam综合征一例并文献复习  

Hennekam syndrome: a case report and review of literature

作　　者：唐本玉[1] 朱顺叶[1] 余婧[1] 潘思年[1] 

机构地区：[1]中山大学附属第三医院儿科,广州510630

出　　处：《新医学》2014年第9期628-631,共4页Journal of New Medicine

摘　　要：Hennekam综合征是以淋巴管扩张、淋巴水肿、特征性颜面部异常、生长发育迟缓为主要临床表现的一种常染色体隐性遗传性疾病。该文报道1例Hennekam综合征患者,其以腹泻、水肿、手足搐搦为主要临床表现,伴有特征性面容,生长发育迟缓及精神运动发育迟滞,经胶囊内镜检查发现小肠淋巴管扩张。在给予低脂、高蛋白、补充中链甘油三酯饮食后患者病情好转。对临床难以解释的慢性腹泻、面容异常、生长发育迟缓、精神运动发育迟滞的患者,需警惕该综合征的可能,应尽早行内镜、病理活组织及淋巴显像检查以明确诊断。Hennekam syndrome is an autosomal recessive disease characterized as lymphangiectasia,lymphedema,characteristic facial abnormalities and growth retardation. We described one case mainly presenting with recurrent diarrhea,edema and tetany complicated with characteristic facial anomaly,growth and mental retardation. Capsule endoscopy revealed intestinal lymphangiectasia. The patient＇s condition was improved after intake of diet control with low fat,high protein and medium-chain triglycerides. Early diagnosis with endoscopy,pathological biopsy and lymphangiography,together with the special dietary supplementation play a pivotal role in the management of Hennekam syndrome.

关 键 词：Hennekam综合征 淋巴管扩张 淋巴水肿 

分 类 号：R725.9[医药卫生—儿科]