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.
Objective To describe a case of giant asymptomatic neurilemmoma of mediastinum. Methods The clinical, radiographic and pathological characteristics of a patient admitted to Changhai Hospital Affiliated to Second MilitaryMedical University in May 2009 presenting with large shadow on chest radiograph was analyzed, and related literature was reviewed. Results Radiographic examination revealed a large mass occupying the right thoracic cavity. Then the pathological issue was obtained bypercutaneous CT-guided needle biopsy. Neurilemmoma was proved by pathological study. Conclusions The low morbidity of giant neurilemmoma of mediastinum, with most of the cases remaining asymptomatic, is prone to misdiagnosis. The large mediastinal mass in the thoracic cavity increases the risk of thoracotomy. It can bepathologically diagnosed through percutaneous image-guided needle biopsy or surgical biopsy.
ObjectiveTo investigate the relationship between optic disc hemorrhage and localized retinal never fiber layer defects (RNFLDs) in norma l tension glaucoma.MethodsIn 83 patients with normal-tension glaucoma, the cumulative frequency and quadrantal distribution of optic disc hemorrhages were retrospectively analyzed. The neighboring relation between optic disc hemorrhages and RNFLDs in a same quadrant and the changes of correspondin gretinal never fiber layer (RNFL) after the occurrence of optic disc hemorrhages were observed by tridimensional photochromy of ocular fundus.Results(1) The occurrences and distribution of optic disc hemorrhages: 29of83(34.94%) patients (33 eyes) had totally 58 occurrences, including 39 in infer iotemporal area, 14 in superiotemporal area, and 5 in other area. (2) The relati onship of neighborhood between optic disc hemorrhages and RNFLDs: in the availab le tridimensional photochrome, 23 occurrences in 15 patients (16 eyes) were foun d with cuneiform RNFLDs in the same quadrant, in which 22 was near the border of cuneiform RNFLDs. (3) The changes of corresponding retinal never fiber layer (R NFL) after the occurrence of optic disc hemorrhages: the photochromes of 24 occurrences in 20 patients (21 eyes) were kept well in the initial and the 2-year follow-up periods, while the changes of RNFL were found in each region correspon ding to the 19 occurrences (in inferiotemporal or superiotemporal area) in the initial photochrome, including 7 cuneiform defects with various sizes, and 12 developed localized RNFLDs next to the initial hemorrhages in the optic disc. No obvious localized RNFL corresponding to the other 5 occurrences (1 in inferiotempo ral, 1 in superiotemporal, and 3 in other areas) were found in the follow up period.ConclusionOptic disc hemorrhages in normal-tension glaucoma occur mostly in inferiotemporal area, and secondly in superiotemporal area of optic disc, and the appearance of optic disc hemorrhages may suggest that the localized RNFLDS would develop in the associated regions.(Chin J Ocul Fundus Dis，2004，20：339-342)
ObjectiveTo observe the changes of circumpapillary retinal nerve fiber layer (CP-RNFL) thickness and optic disk parameters in retinitis pigmentosa (RP) eyes. MethodsProspective clinical case-control study. A total of 25 patients (42 eyes) with RP were in the RP group, and 42 age matched healthy subjects (84 eyes) in the control group. All subjects underwent optical coherence tomography (OCT) examination, in which 37 eyes with 3D optic disk scanning and 5 eyes with circle optic disk scanning. The parameters included average thickness of entire CP-RNFL, thickness of nasal, superior, temporal and inferior quadrant of CP-RNFL, disc area, disc cup area, rim area, cup/disc (C/D) area ratio, C/D horizontal diameter ratio, C/D vertical diameter ratio, disc cup volume and disc rim volume. ResultsThe average thickness and the thickness of temporal and nasal quadrants of CP-RNFL in RP group were significantly thicker than the control group (t=2.27, 3.73, 6.44; P=0.027, 0.00, 0.00), while the thickness of inferior and superior areas were the same as control group(t=-1.49, -1.19; P=0.14, 0.24). The disc area, disc cup area, C/D area ratio, C/D horizontal diameter ratio, C/D vertical diameter ratio, disc cup volume in RP group were significantly bigger than control group (P < 0.05), while rim area and rim volume were not significant differences (t=1.75, 0.40; P=0.08, 0.59). ConclusionIn comparison with the healthy subjects, the average thickness and temporal and nasal areas of CP-RNFL in RP eyes were thicker, and the disc area, disc cup area, C/D area ratio, C/D horizontal diameter ratio, C/D vertical diameter ratio, disc cup volume in RP eyes were bigger.
Neurofibromatosis type 1 (NF1) is an autosomal dominant neoplastic disease caused by mutations in the NF1 gene and one of the most challenging diseases to treat. Patients have a characteristic phenotype with neurofibromas as the main features in different forms, including numerous cutaneous neurofibromas, plexiform neurofibromas involving the primary nerves, or malignant peripheral nerve sheath tumors with a very short survival period after malignant transformation. NF1 patients also suffer from multi-system involvement, with a high rate of deformity and disability, making complete surgical resection more difficult. Currently, there is no consensus on the diagnosis and treatment of NF1 in China, and different disciplines have different understandings of NF1. Multidisciplinary systematic evaluations and cooperative treatments are the keys to improve the treatment, quality of life, and prognosis of NF1 patients. In 2020, the Department of Plastic Surgery of the Ninth People’s Hospital of Shanghai Jiaotong University School of Medicine led the establishment of the first multi-center collaboration group for NF1 in China. Furthermore, the group had worked with renowned experts from the various departments including surgical oncology, medical oncology, dermatology, reproductive medicine, et al. in China to formulate the “Expert consensus on diagnosis and management of neurofibromatosis type 1 (2021 edition)”, aiming to promote standardized and homogeneous treatment covering the whole life cycle of NF1 patients and improve the treatment level and outcome of NF1 patients in China.
ObjectiveTo compare the differences of optic nerve head (ONH) parameters and the thickness of circumpapillary retinal nerve fiber layer (CP-RNFL) between acute Vogt-Koyanagi-Harada syndrome (VKH) and acute central serous chorioretinopathy (CSC) patients.MethodsRetrospective clinical case control analysis. This study included 38 eyes of 20 acute VKH patients (VKH group) and 37 eyes of 37 acute CSC patients (CSC group). Seventy five eyes of 57 normal healthy subjects, matching patients with age and gender, were collected as control group. The disc RPE angle, the thickness of average CP-RNFL, the nasal, superior, temporal and inferior quadrant CP-RNFL thickness, and ONH parameters including optic disc area, cup area, rim area, C/D area ratio, linear CD ratio (CDR), vertical CDR were measured by 3D-OCT. Analysis of variance was performed for comparison among three groups. Minimum significant difference t test was performed for comparison between two groups.ResultsThe differences of ONH parameters between VKH group and CSC group: 29 eyes of VKH group appeared retinal detachment next to disc, only 12 eyes appeared in CSC group. Twenty one eyes of VKH group appeared optic disc hyperemia while none in CSC group. The three groups’ disc RPE angles were (138.62±11.96)°, (154.09±5.85)° and (153.41±5.77)°. VKH group were significantly smaller than CSC group (t=－2.05, P=0.00) and control group (t=－1.68, P=0.00), while there was no significant difference between CSC group and control group (t=－1.88, P=0.72). The optic cup area and rim area were significantly bigger in VKH group than in CSC group (t=4.61, 2.71; P=0.00, 0.01), and the thickness of mean CP-RNFL, all quadrants of CP-RNFL were significantly thicker in VKH group than in CSC group (t=6.25, 4.40, 3.53, 5.48, 2.69; P=0.00, 0.00, 0.00, 0.00, 0.01).ConclusionCompared with the acute CSC, VKH patients are likely to appear retinal detachment next to disc, their disc RPE angles are smaller, their optic cup area and rim area are bigger, and their CP-RNFL thickness are thicker.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease caused by mutations in the NF1 gene. The disease is characterized by neurofibromatosis, which simultaneously affects multiple systems such as nerves, skin, and bone, and has complex clinical manifestations. Since the National Institutes of Health (NIH) established diagnostic criteria in 1988, the diagnosis and treatment of NF1 have progressed significantly. However, due to the complexity of the disease and the lack of effective treatments, the diagnosis and treatment of NF1 still face many challenges. Strengthening multidisciplinary collaboration, improving and popularizing disease diagnosis and treatment strategies, and developing more effective drugs and treatment methods are the keys to further improve the treatment level of NF1 diseases.