CAJ | 학술논문

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 종합정시이림파관확장、림파수종、특정성안면부이상、생장발육지완위주요림상표현적일충상염색체은성유전성질병。해문보도1례 Hennekam 종합정환자，기이복사、수종、수족휵닉위주요림상표현，반유특정성면용，생장발육지완급정신운동발육지체，경효낭내경검사발현소장림파관확장。재급여저지、고단백、보충중련감유삼지음식후환자병정호전。대림상난이해석적만성복사、면용이상、생장발육지완、정신운동발육지체적환자，수경척해종합정적가능，응진조행내경、병리활조직급림파현상검사이명학진단。
Hennekam syndrome is an autosomal recessive disease characterized as lymphangiectasia, lymphedema,characteristic facial abnormalities and growth retardation.We described one case mainly presen-ting with recurrent diarrhea,edema and tetany complicated with characteristic facial anomaly,growth and men-tal 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 en-doscopy,pathological biopsy and lymphangiography,together with the special dietary supplementation play a pivotal role in the management of Hennekam syndrome.