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,,():1158-1162.[doi:10.3760/cma.j.cn101785-202503100-012]
Diagnosis and treatment of limb neurofibromas in children:a report of 8 cases
- Keywords:
- Neurofibromatosis 1; Extremities; Diagnosis; Surgical Procedures; Operative; Therapy; Treatment Outcome
- 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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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