ObjectiveTo evaluate the effectiveness of Cross-Union surgery for the treatment of pseudarthrosis of the tibia (PT) with neurofibromatosis type 1 (NF1). MethodsThe clinical data of 8 children of PT with NF1 who met the selection criteria between January 2018 and December 2023 was retrospectively analyzed. There were 5 boys and 3 girls, and the operative age ranged from 1.8 to 13.3 years with a median age of 3.5 years. According to Paley classification, there were 2 cases of type 2a, 2 cases of type 3, 2 cases of type 4a, and 2 cases of type 4c. There were 5 cases of first operation and 3 cases of re-fracture after previous operation. Six cases had leg length discrepancy before operation, and 2 of them had shortening over 2.0 cm. Except for 1 case of ankle fusion, the other 7 cases had ankle valgus. Preoperative coronal/sagittal angulation was recorded. Postoperative pseudarthrosis healing and refracture were observed. Leg length discrepancy and tibiotalar angle were measured and recorded before operation and at last follow-up. Inan imaging evaluation criteria was used to evaluate the imaging effect. ResultsAll patients were followed up 12-37 months (mean, 23.5 months). One pseudarthrosis failed to heal at 12 months after operation and healed at 3 months after reoperation, while the other pseudarthrosis healed with a healing rate of 87.5% and a healing time of 4-8 months (mean, 5.3 months). No refracture occurred during the follow-up. At last follow-up, there were 2 new cases with leg length discrepancy, which were 0.7 cm and 1.3 cm, respectively. In 2 cases with the leg length discrepancy more than 2.0 cm before operation, the improvement was from 4.1 cm and 12.6 cm to 2.1 cm and 9.0 cm, respectively. There was no significant difference in leg length discrepancy between pre- and post-operation in 8 cases (P>0.05). At last follow-up, 6 patients still had ankle valgus, and there was no significant difference in the tibiotalar angle between pre- and post-operation (P>0.05); the tibial coronal/sagittal angulation significantly improved when compared with that before operation (P<0.05). According to Inan imaging evaluation criteria, 1 case was good, 6 cases were fair, and 1 case was poor. Conclusion Cross-Union surgery is an effective method for the treatment of PT with NF1 in children, can achieve good bone healing results with a low risk of re-fracture. The surgery may not have significant effects on leg length discrepancy and ankle valgus, and further treatment may be required.
ObjectiveTo summarize the treatment strategies and clinical experiences of 5 cases of giant plexiform neurofibromas (PNF) involving the head, face, and neck. MethodsBetween April 2021 and May 2023, 5 patients with giant PNFs involving the head, face, and neck were treated, including 1 male and 4 females, aged 6-54 years (mean, 22.4 years). All tumors showed progressive enlargement, involving multiple regions such as the maxillofacial area, ear, and neck, significantly impacting facial appearance. Among them, 3 cases involved tumor infiltration into deep tissues, affecting development, while 4 cases were accompanied by hearing loss. Imaging studies revealed that all 5 tumors predominantly exhibited an invasive growth pattern, in which 2 and 1 also presenting superficial and displacing pattern, respectively. The surgical procedure followed a step-by-step precision treatment strategy based on aesthetic units, rather than simply aiming for maximal tumor resection in a single operation. Routine preoperative embolization of the tumor-feeding vessels was performed to reduce bleeding risk, followed by tumor resection combined with reconstructive surgery. Results All 5 patients underwent 1-3 preoperative embolization procedures, with no intraoperative hemorrhagic complications reported. Four patients required intraoperative blood transfusion. A total of 10 surgical procedures were performed across the 5 patients. One patient experienced early postoperative flap margin necrosis due to ligation for hemostasis; however, the incisions in the remaining patients healed without complications. All patients were followed up for a period ranging from 6 to 36 months, with a mean follow-up duration of 21.6 months. No significant tumor recurrence was observed during the follow-up period. Conclusion For patients with giant PNF involving the head, face, and neck, precision treatment strategy can effectively control surgical risks and improve the standard of aesthetic reconstruction. This approach enhances overall treatment outcomes by minimizing complications and optimizing functional and cosmetic results.
ObjectiveTo investigate the procedure and effectiveness of posterior approach for operation of atlantoaxial subdural extramedullary nerve sheath tumors.MethodsBetween January 2012 and March 2017, 9 patients with atlantoaxial subdural extramedullary nerve sheath tumors were treated, including 7 males and 2 females, aged 25-62 years (mean, 45.4 years). There were 8 cases of neurinoma and 1 case of neurofibroma. The tumors were located at C1 in 1 case and C1, 2 in 8 cases. The disease duration ranged from 5 to 120 months, with an average of 45.9 months. The neural function was rated as grade D in 8 cases and grade E in 1 case according to the American Spinal Injury Association (ASIA) grading system. The Japanese Orthopaedic Association (JOA) score was 12.8±2.5. All patients underwent posterior cervical surgery. The laminae were replanted and fixed in 2 cases. The atlantoaxial or occipitocervical axis was not fixed in all patients.ResultsThe operation time was 90-343 minutes, with an average of 179.2 minutes. The intraoperative blood loss was 50-1 000 mL, with an average of 335.6 mL. No relevant complication occurred after operation. All patients were followed up 6-21 months (mean, 11.1 months). The postoperative X-ray films showed the good stability of the cervical spine. All patients had complete tumor resection and no recurrence. The replanted laminae achieved fusion and the internal fixation was firm. According to ASIA grading system, 3 patients of preoperative ASIA grade D had upgraded to grade E at 3 months after operation, while the remaining patients had no change in grading. The JOA score was 15.1±1.4 at 6 months after operation, which was significantly improved when compared with that before operation (t=4.221, P=0.003).ConclusionThe atlantoaxial subdural extramedullary nerve sheath tumor (including the ventral tumor) can be removed completely via posterior approach. The axis lamina can be replanted and fixed with the small titanium plate or lamina screw when necessary, and the atlantoaxial or occipitocervical fixation was not needed.
Objective To summarize the latest developments in neurosurgical treatments for neurofibromatosis type 1 (NF1) and explore therapeutic strategies to provide comprehensive treatment guidelines for clinicians. Methods The recent domestic and international literature and clinical cases in the field of NF1 were reviewed. The main types of neurological complications associated with NF1 and their treatments were thorough summarized and the future research directions in neurosurgery was analyzed. Results NF1 frequently results in complex and diverse lesions in the central and peripheral nervous systems, particularly low-grade gliomas in the brain and spinal canal and paraspinal neurofibromas. Treatment decisions should be made by a multidisciplinary team. Symptomatic plexiform neurofibromas and tumors with malignant imaging evidence require neurosurgical intervention. The goals of surgery include reducing tumor size, alleviating pain, and improving appearance. Postoperative functional rehabilitation exercises, long-term multidisciplinary follow-up, and psychosocial interventions are crucial for improving the quality of life for patients. Advanced imaging guidance systems and artificial intelligence technologies can help increase tumor resection rates and reduce recurrence. Conclusion Neurosurgical intervention is the primary treatment for symptomatic plexiform neurofibromas and malignant peripheral nerve sheath tumors when medical treatment is ineffective and the lesions progress rapidly. Preoperative multidisciplinary assessment, intraoperative electrophysiological monitoring, and advanced surgical assistance devices significantly enhance surgical efficacy and safety. Future research should continue to explore new surgical techniques and improve postoperative management strategies to achieve more precise and personalized treatment for NF1 patients.
ObjectiveTo observe the imaging characteristics of fundus choroidal nodules in patients with neurofibromatosis type 1 (NF1). MethodsA retrospective clinical study. From January 2018 to August 2022, 20 eyes of 10 patients with NF1 combined with choroidal nodules who were diagnosed by ophthalmology examination at the Affiliated Hospital of Yunnan University were included in the study. Among them, there were 6 male cases with 12 eyes and 4 female cases with 8 eyes; both eyes were affected. Age was (28.0±6.9) years old. Both eyes were involved. All patients underwent color fundus photography, infrared fundus photography (IR), fundus autofluorescence (FAF), fluorescein fundus angiography (FFA), and optical coherence tomography (OCT). Nine eyes underwent multi-wavelength color imaging (MC) and 5 eyes underwent OCT angiography (OCTA). ResultsIn 20 eyes, fundus color photography showed "spiral-like" changes in the small retinal blood vessels on the surface of the choroidal nodules in 1 eye. FAF and FFA examination showed no abnormalities in all affected eyes. On IR examination, choroidal nodules appeared as strong reflective lesions of varying sizes and numbers, in the form of spots and/or sheets, and were partially fused. In the 9 eyes that underwent MC examination, patchy red signals was observed in standard MC images. OCT examination showed that all affected eyes had strong choroidal reflective mass lesions under the retinal pigment epithelium, which were flat patchy or slightly raised “dome-like”, corresponding to IR strong reflective lesions. The choriocapillaris layer was squeezed and thinned, and the large choroidal vessels show weak reflection. Five eyes underwent OCTA examination, there was no loss of blood flow density at the choroidal nodules and the of the superficial an deep retinal capillary plexus in 3 eyes. The choroidal capillary blood flow density was reduced in 2 eyes. ConclusionIR of choroidal nodules is characterized by strong reflection lesions of varying sizes and numbers, which appear in spots and/or sheets. OCT shows enhanced reflection of the choriocapillaris layer corresponding to the strong IR reflection lesions.
Objective To investigate the clinical features, treatment methods, and prognostic influence factors of patients with malignant peripheral nerve sheath tumor (MPNST). MethodsA retrospective analysis was conducted on 96 MPNST patients treated between January 1, 2015 and December 31, 2021. There were 46 males and 50 females, aged between 15 and 87 years (mean, 48.2 years). The tumors were located in the trunk in 50 cases, extremities in 39 cases, and head and neck in 7 cases. The maximum tumor diameter was <5 cm in 49 cases, ≥5 cm in 32 cases, with 15 cases missing data. Tumor depth was deep in 77 cases and superficial in 19 cases. The Fédération Nationale des Centres de Lutte Contre le Cancer (FNCLCC) histological grading was G1 in 9 cases, G2 in 12 cases, and G3 in 34 cases, with 41 cases missing data. There were 37 recurrent MPNST cases, 32 cases with neurofibromatosis type 1 (NF1), and 26 cases in stage Ⅳ. Postoperative adjuvant radiotherapy was administered to 25 patients, perioperative chemotherapy to 45 patients, and anlotinib-targeted therapy to 30 patients. R0 resection was achieved in 73 cases. Patients were divided into groups based on the presence or absence of NF1, and baseline data between the two groups were compared. Kaplan-Meier curves were generated to assess disease-free survival (DFS) and overall survival (OS) based on various factors (age, gender, presence of NF1, recurrent MPNST, stage Ⅳ MPNST, FNCLCC grade, R0 resection, tumor location, tumor size, tumor depth, perioperative chemotherapy, postoperative adjuvant radiotherapy, and anlotinib-targeted therapy), and differences between survival curves were analyzed using the Log-Rank test. Multivariate COX proportional hazards regression was used to identify independent prognostic factors for MPNST. Results Patients with NF1 had a significantly higher proportion of superficial tumors and lower FNCLCC grade compared to those without NF1 (P<0.05); no significant difference was found for other variables (P<0.05). Kaplan-Meier analysis showed that recurrent MPNST, stage Ⅳ MPNST, FNCLCC grade, R0 resection, perioperative chemotherapy, and anlotinib-targeted therapy were factors influencing 1-year DFS (P<0.05), while stage Ⅳ MPNST, FNCLCC grade, and perioperative chemotherapy were factors affecting 3-year OS (P<0.05). Multivariate COX proportional hazards regression analysis revealed that recurrent MPNST and high-grade FNCLCC (G3) were independent prognostic factors for 1-year DFS (P<0.05), while stage Ⅳ MPNST, superficial tumor depth, age over 60 years, postoperative adjuvant radiotherapy, and anlotinib-targeted therapy were independent prognostic factors for 3-year OS (P<0.05). Conclusion MPNST patients with NF1 tend to have more superficial tumors and lower FNCLCC grades. FNCLCC grade, R0 resection, and adjuvant therapies, including radiotherapy and anlotinib-targeted therapy, are closely associated with MPNST prognosis. Complete surgical resection should be prioritized in clinical management, along with adjuvant treatments such as radiotherapy and targeted therapy of anlotinib to improve patient outcomes.
The isolated gastric neurofibroma is a rare disease and is difficult to be diagnosed before operation. Six patients with this disease were admitted to our hospital from 1992 to 1995. The methods of diagnosis included being alert to this disease, ultrasonic gastroscope and immunopathologic examination, especially the latter. It should be differentiated from carcinoma, leiomyoma,and lymhposarcoma of the stomach. Two of these patients received laparoscopic local resection of the tumor, and the others partial gastric resection.