儿童黏多糖贮积症Ⅰ型合并腹外疝及泛发型蒙古斑3例  

Mucopolysaccharidosis type Ⅰ complicated with abdominal hernia and extensive Mongolian spots:a report of three cases

作　　者：李玉叶 丛力宁[1] 李玉楼[1] 王赞 张蔷[3] 张晓军 付兴娇 Li Yuye;Cong Lining;Li Yulou;Wang Zan;Zhang Qiang;Zhang Xiaojun;Fu Xingjiao(Department of Radiology,Hebei Children's Hospital,Shijiazhuang 050000,China;Department of General Surgery,Hebei Children's Hospital,Shijiazhuang 050000,China;Department of Endocrinology,Hebei Children's Hospital,Shijiazhuang 050000,China)

机构地区：[1]河北省儿童医院放射科,石家庄050000 [2]河北省儿童医院普外科,石家庄050000 [3]河北省儿童医院内分泌科,石家庄050000

出　　处：《临床小儿外科杂志》2023年第3期288-290,共3页Journal of Clinical Pediatric Surgery

基　　金：河北省医学科学研究重点课题计划(20200660)

摘　　要：黏多糖贮积症Ⅰ型(Mucopolysaccharidosis typeⅠ,MPSⅠ)是一种罕见的遗传代谢性疾病,临床表现多样,腹外疝及泛发型蒙古斑均是MPSⅠ较常见的临床表现,但由于MPSⅠ的罕见性,临床诊疗过程中往往忽视腹外疝合并泛发型蒙古斑对MPSⅠ的提示意义。迄今为止,国内未见儿童MPSⅠ合并腹外疝及泛发型蒙古斑的报道。本文报道3例MPSⅠ合并腹外疝及泛发型蒙古斑患儿的诊疗经验。

关 键 词：疝修补术 黏多糖贮积症Ⅰ型 早期诊断 儿童 

分 类 号：R725.8[医药卫生—儿科] R726.5[医药卫生—临床医学]