儿童Ⅰ型神经纤维瘤病合并眼眶横纹肌肉瘤1例  

A case of orbital rhabdomyosarcoma combined with neurofibromatosis type 1 in a child

作　　者：高丽 周吉超[1] 王毅[1] Gao Li;Zhou Jichao;Wang Yi(Department of Ophthalmology,Peking University Third Hospital,Beijing Key Laboratory of Restoration of Damaged Ocular Nerve,Beijing 100191,China)

机构地区：[1]北京大学第三医院眼科、眼部神经损伤的重建保护与康复北京市重点实验室,北京100191

出　　处：《中华眼科杂志》2023年第4期305-309,共5页Chinese Journal of Ophthalmology

摘　　要：本文报道1例确诊的儿童眼眶横纹肌肉瘤(RMS)合并Ⅰ型神经纤维瘤病(NF-1),NF-1是一种常见的神经遗传疾病,合并眼眶RMS病例少见报道,本例患儿1岁时起病手术切除,5年后复发,经过病理诊断,基因诊断,确诊为眼眶RMS合并NF-1,患儿经过手术治疗、化疗,患儿目前眼部情况稳定,本文侧重于患儿临床表现的分析,并复习相关文献,以提高对该病的认识。This article presents a case of orbital rhabdomyosarcoma(RMS)in a child who also had neurofibromatosis type 1(NF-1).Although NF-1 is a common neurogenetic disease,there are few reports of its combination with orbital RMS.The patient underwent surgical removal of the tumor at the age of one,but the cancer recurred after five years.Following pathological and genetic diagnosis,the patient was confirmed to have orbital RMS combined with NF-1.After surgical treatment and chemotherapy,the patient′s eye condition has stabilized.This article focuses on analyzing the clinical manifestations of this case and reviews relevant literature to improve our understanding of this disease in children.

关 键 词：神经纤维瘤病1型 横纹肌肉瘤 眶肿瘤 儿童 

分 类 号：R739.7[医药卫生—肿瘤]