[1]胡欣,杨翔宇,聂玉婷,等.儿童四肢神经纤维瘤8例诊治体会[J].临床小儿外科杂志,2025,(12):1158-1162.[doi:10.3760/cma.j.cn101785-202503100-012]
　Hu Xin,Yang Xiangyu,Nie Yuting,et al.Diagnosis and treatment of limb neurofibromas in children:a report of 8 cases[J].Journal of Clinical Pediatric Surgery,2025,(12):1158-1162.[doi:10.3760/cma.j.cn101785-202503100-012]
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儿童四肢神经纤维瘤8例诊治体会

《临床小儿外科杂志》[ISSN:1671-6353/CN:43-1380/R] 卷: 期数: 2025年12 页码: 1158-1162 栏目: 论著 出版日期: 2025-12-28
Title:
Diagnosis and treatment of limb neurofibromas in children:a report of 8 cases
作者:
胡欣1;  杨翔宇2;  聂玉婷2;  赵鼎2;  刘政1;  雷霆1;  赵卫华3;  梅海波1;  朱光辉1;  李宇4
1. 中南大学湘雅医学院附属儿童医院 湖南省儿童医院骨科 儿童骨科学湖南省重点实验室, 长沙 410007;
2. 南华大学儿科学院, 长沙 410007;
3. 湖南省人民医院 湖南师范大学附属第一医院, 长沙 410005;
4. 娄底市第一人民医院骨科, 娄底 417000
Author(s):
Hu Xin1;  Yang Xiangyu2;  Nie Yuting2;  Zhao Ding2;  Liu Zheng1;  Lei Ting1;  Zhao Weihua3;  Mei Haibo1;  Zhu Guanghui1;  Li Yu4
1. Hunan Provincial Key Laboratory of Orthopedics and Pediatric Orthopedics, Xiangya Medical College; Affiliated Children’s Hospital, Central South University (Hunan Children’s Hospital), Changsha 410007, China;
2. School of Pediatrics, University of South China, Changsha 410007, China;
3. Hunan Provincial People’s Hospital (First Affiliated Hospital, Hunan Normal University), Changsha 410005, China;
4. Department of Orthopedics, First Municipal People’s Hospital, Loudi 417000, China
关键词:
神经纤维瘤病1型; 四肢; 诊断; 外科手术; 治疗; 治疗结果
Keywords:
Neurofibromatosis 1; Extremities; Diagnosis; Surgical Procedures; Operative; Therapy; Treatment Outcome
DOI:
10.3760/cma.j.cn101785-202503100-012
摘要:
目的 初步探讨儿童四肢神经纤维瘤的临床特征及诊治要点。方法 回顾性分析中南大学湘雅医学院附属儿童医院(湖南省儿童医院)骨科2008年1月至2023年12月收治的儿童四肢神经纤维瘤患儿临床表现、辅助检查、治疗方法及治疗结果。结果 共8例患儿纳入研究,其中男6例、女2例;中位年龄7岁8个月(范围:5岁5个月至16岁);均诊断为神经纤维瘤病1型(neurofibromatosis 1,NF1);累及上肢2例,累及下肢6例;1例伴盆腔及脊柱神经纤维瘤,2例伴局部疼痛。术前完善四肢X线、MRI、超声等检查。8例超声检查显示不均匀稍高回声或混合回声包块,其内可见点状血彩;MRI均显示条片状或结节状稍长TI、长T2信号,增强后不均匀强化。1例患侧股骨及胫骨过长畸形(双下肢长度相差5.2 cm),1例患侧股骨和胫骨过长畸形伴胫骨弯曲、踝外翻(双下肢长度相差4.0 cm)。均行手术治疗,其中4例病变局限,行肿瘤全切术;3例行肿瘤次全切除术;1例行双股骨中上段截肢+肿瘤部分切除术。2例下肢过长患儿同期行股骨远端及胫骨近端半骨骺阻滞术,其中1例因踝外翻加行胫骨远端内侧半骨骺阻滞术。术后病理证实5例为弥漫型神经纤维瘤,3例为丛状神经纤维瘤。1例双下肢截肢患儿术后4年因深静脉血栓及肺、脑栓塞死亡;7例存活,未见明显复发。2例患侧下肢不等长患儿末次随访时双下肢等长。结论 儿童四肢神经纤维瘤出现疼痛、压迫、功能障碍等症状时应尽早手术治疗。对于手术不能完全切除的弥漫型或丛状神经纤维瘤,术后可辅以丝裂原活化蛋白激酶(mitogen activated protein kinase kinase,MEK)抑制剂口服治疗。
Abstract:
Objective To explore the clinical diagnosis and treatment of limb neurofibromas in children. Methods From January 2008 to December 2023,clinical manifestations,auxiliary examinations,treatments and outcomes of 8 hospitalized children of neurofibromatosis of the extremities at Hunan Children’s Hospital were retrospectively reviewed. Results There were 6 boys and 2 girls with a mean age of 7.7(5.4-16.0) year.There were upper limb neurofibromas (n=2),lower limb neurofibromas (n=6) and pelvic and spinal neurofibroma (n=1).Two cases had local pain.Preoperative examinations of radiograph,magnetic resonance imaging (MRI) and ultrasonography were performed.Ultrasound of all cases revealed uneven slightly hyperechoic or mixed echo masses with punctate blood color.MRI revealed strip or nodular slightly long T1/T2 signals with uneven enhancement.One case presented with femoral and tibial overgrowth deformity (lower limb length difference of 5.2 cm).One child had femoral and tibial overgrowth deformity with tibial curvature and ankle valgus (lower limb length difference of 4.0 cm).Total tumor resection was performed for localized neurofibroma (n=4),subtotal tumor resection (n=3) and partial tumor resection (n=6).One case underwent amputation of upper and middle segments of bilateral femur and partial tumor resection.Two children with lower limb overgrowth underwent epiphysiodesis of distal femur and proximal tibia simultaneously and one child underwent medial hemi-epiphysiodesis of distal tibia due to ankle valgus.Postoperative pathology confirmed diffuse neurofibroma (n=5) and plexiform neurofibroma (n=3).One child with amputation of both lower limbs died from deep venous thrombosis,pulmonary embolism and cerebral embolism at Year 4 post-operation.The remainders (n=7) survived without obvious recurrence.The length of both lower limbs was equal at the last follow-up in 2 children with long lower limbs at affected side. Conclusions Children with limb neurofibroma should be operated as soon as possible for pain,compression,dysfunction and other symptoms.For diffuse or plexiform neurofibromas incompletely resected by surgery,MEK inhibitors may be administered orally after surgery to reduce tumor size and pain.Children with limb neurofibroma should raise an alarm for the phenomenon of limb overgrowth.

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备注/Memo

收稿日期:2025-3-25。
基金项目:儿童骨科学湖南省重点实验室专项经费(2023TP1019);国家重点研发计划(2023YFC2507605)
通讯作者:李宇,Email:187040296@qq.com

更新日期/Last Update: 2025-12-28