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Background: To present a single-institution experience in the comprehensive and global soft-tissue surgical approach of patients with craniofacial neurofibromatosis type 1 (NF-1)., Methods: A retrospective analysis of patients with craniofacial NF-1 (n = 20) who underwent craniofacial soft-tissue reconstruction between 1993 and 2014 was conducted. Surgical treatment was individualized according to age, functional and/or aesthetic impairment, neurofibroma types, anatomical location, size, and patient/family and surgical team preferences, regardless of previously published compartmental grading systems. The surgical results were classified based on 2 previously published outcome rating scales (craniofacial symmetry improvement and need for additional surgery)., Results: All patients underwent en bloc translesional surgical excisions, 12 facial suspension, 3 eyebrow suspension, 2 ear suspension, 9 lateral canthopexy, 5 horizontal shortening of the tarsus of lower eyelid, and 1 horizontal shortening of the tarsus of upper eyelid. The degree of craniofacial symmetry improvement was considered "mostly satisfactory" (75%), and the overall rate of surgical results ranked according to the need for additional surgery was 2.4 ± 0.50, with variations according to the spectrum of soft-tissue involvement., Conclusions: According to the experience and surgical outcomes presented in this study, the soft-tissue surgical approach of the craniofacial NF-1 should be global, comprehensive, and individualized.

Introduction: Neurofibromatosis I (NF-1) is an autosomal dominant disease giving rise to hundreds of cutaneous neurofibromas. In addition to localised symptoms such as pain and pruritus, these lesions can have a devastating psychosocial impact. To date, there is no consensus on the optimal management of these lesions. We present the clinical and patient-reported outcomes of a series of NF-1 patients treated with electrodessication by one surgeon., Methods: All patients treated by electrodessication for cutaneous neurofibromas between 2012 and 2015 by one clinician were retrospectively reviewed. Clinical and patient-reported outcomes were measured using a patient satisfaction questionnaire and review of the notes., Results: Six patients were operated on during the study period (five women and one man). Prior to this new technique, patients had on average eight episodes (range 4-20) of excisional procedures under local anaesthesia removing one to five lesions. With electrodessication, patients had on average three (range 1-5) electrodessication episodes under general anaesthesia, treating hundreds of lesions per session. All patients were treated as a day case. One patient experienced a minor wound infection and another minor bleeding. Five of six patients preferred electrodessication to surgical excision., Conclusion: Electrodessication enables the treatment of hundreds of neurofibromas in a single operation. The procedure has low complication rates with high levels of clinical and patient-reported outcomes., (Copyright © 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)

Traditional transabdominal and retroperitoneal approaches for paravertebral tumors can be associated with injury to the viscera and lumbar plexus. The authors provide a technical description of a known approach with a new application for the resection of paraspinal tumors using both open and minimally invasive transpsoas techniques and report on 2 illustrative cases. In both cases, gross-total resection of the tumor was achieved and the patients experienced resolution of their presenting neurological symptoms, although one of the patients required 2 extra days of hospitalization due to an asymptomatic retroperitoneal hematoma, which was conservatively managed. The authors conclude that the lateral transpsoas approach is a safe approach for paravertebral tumors and may not require an access surgeon.

Background: Supratentorial hemangioblastomas are rare tumors, most commonly occurring in the sellar/suprasellar region, cerebrum, and ventricle. They are generally found in patients with von Hippel Lindau disease but have infrequently been reported in patients without this syndrome., Case Description: A 35-year-old woman with a history of neurofibromatosis type 1 presented to our care with visual loss and headaches. Magnetic resonance imaging of the brain demonstrated an 8-mm cystic, contrast-enhancing lesion abutting the optic chiasm and optic tracts. The patient's endocrine profile was unremarkable. The tumor was resected using an endoscopic expanded transsphenoidal approach. Pathologic evaluation was consistent with hemangioblastoma. Postoperatively, the patient experienced an improvement in her visual symptoms., Conclusions: Hemangioblastoma should be included in the differential of sellar/suprasellar mass lesions, particularly in patients with von Hippel Lindau disease. Small suprasellar lesions may be safely and effectively removed using an expanded transsphenoidal approach., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background: Neurofibromas in neurofibromatosis type 1 induce aesthetic and functional morbidity. Perioperative bleeding has been reported as an obstacle to neurofibroma resections. The authors studied the requirement for blood transfusion during surgical treatment of neurofibromatosis type 1., Methods: Six hundred twenty-two procedures performed on 390 neurofibromatosis type 1 patients at the national referral center from 1995 to 2011 were analyzed in two chronologic sets of patients: set 1 (February of 1995 to September of 2007), in which only one surgeon operated; and set 2 (October of 2007 to January of 2011), in which two additional surgeons were involved. Malignant peripheral nerve sheath tumors, reconstructive procedures, and spontaneous hemorrhages were excluded from the analysis. Age, sex, preoperative hemoglobin concentration, location, length, estimated volume and histologic features of the largest neurofibroma (cumulative values for multiple neurofibromas), and procedure duration were studied as potential predictors of blood transfusion that were measured in terms of units of packed red blood cells., Results: Seventy reconstructive procedures, two cases of spontaneous hemorrhage, and 32 malignant peripheral nerve sheath tumor resections were excluded. Among 516 procedures (318 and 198 in sets 1 and 2, respectively), 17 (2.7 percent) required blood transfusions. The requirement for transfusion was associated with neurofibroma length in both sets, with an optimal cutoff value of 13 cm in both sets., Conclusions: Contrary to the literature, the requirement for blood transfusion was found to be low (2.7 percent of the cases) during elective resection of neurofibromas in neurofibromatosis type 1. Elective resections of benign neurofibromas less than 13 cm in length were not associated with a requirement for blood transfusion., Clinical Question/level of Evidence: Risk, III.

Purpose: Our study compared the rates of union achieved with the Ilizarov method in congenital pseudarthrosis of the tibia (CPT) associated with neurofibromatosis type 1 (NF1) or CPT of idiopathic origin in paediatric patients., Methods: We studied the outcomes of 28 children that were treated for CPT between 2005 and 2013. Group 1 included children (n = 14, mean age = 9.7 years) with CPT associated with NF1 while group 2 were CPT cases that had radiographic confirmation of dysplastic lesions in the tibia but lacked clinical NF1 manifestations (n = 14, mean age = 8.6 years). There was no statistical difference between the groups regarding their age or number of previous operations per patient. Individual technical solutions were planned for each patient but coaptation of bone fragments and autologous local tissue grafting to achieve a greater bone thickness and contact area at the pseudarthrosis level were mainly used. Refracture-free rate after the first operation, number of re-operations per patient, and union rates in the groups were compared., Results: Bone union and weight bearing were obtained in all the cases after the first operation. Refracture-free rate was 42.86 % in group 1 and 35.71% in group 2 (no statistical difference, p > 0.05). Mean number of re-operations per patient was 1.07 and 0.78 respectively (p > 0.05). Subsequent treatment for refractures with the Ilizarov techniques gained 92.86% of union in both groups at the follow-ups by completion of the study (range, 2-9 years)., Conclusions: The Ilizarov method yields comparable results in the management of CPT associated with NF1 or tibial dysplasia of idiopathic origin in paediatric cases. Further research should focus on the ways to support the Ilizarov method in order to reduce the number of repetitive surgeries or eliminate them.

We herein describe a case of somatostatinoma coexisting with a gastrointestinal stromal tumor (GIST) in the duodenum of an 81-year-old woman with Von Recklinghausen's disease (VRD) and common bile duct stone who presented with diarrhea of three months in duration. Gastroduodenoscopy revealed an ulcer on the second part of the duodenum. A 2.1-cm enhancing tumor was observed to extend from the ulcer on an abdominal computed tomography scan. Subtotal stomach-preserving pancreaticoduodenectomy revealed a somatostatinoma on the papilla of the vater and duodenal GIST. There have been only eight reports on VRD associated with ampullary somatostatinoma and GIST. An awareness of this possibility in patients with gastrointestinal lesions is necessary for proper treatment and patient management.

Neurofibromatosis types 1 (NF-1) and 2 are significant entities to otolaryngologists because they frequently involve head and neck skin, brain, skull base, orbits, and surrounding neural and vascular structures. We present the case of a 52-year-old male with progressive, marked unilateral proptosis due to a multilobulated orbital mass, secondary to biopsy-proven plexiform neurofibroma (PN). Acute worsening of proptosis leading to corneal abrasion, diplopia, and pain required debulking surgery, for which an orbitozygomatic approach was utilized. Genetic testing for NF-1 revealed no mutation. This rare case of NF-negative orbital PN and multidisciplinary treatment considerations for expansile orbital tumors are discussed., (© 2015 The American Laryngological, Rhinological and Otological Society, Inc.)

Myxomas are the most common benign cardiac tumors constituting approximately 75% of all the cardiac tumors. Rest 25% are malignant and sarcomas being the commonest. Among the sarcomas primary cardiac malignant peripheral nerve sheath tumors are extremely rare. They usually arise in relation to the branches of vagus or phrenic nerves, 5-42% being associated with neurofibromatosis type 1. Clinical signs and symptoms depend on the location and extent of involvement. Complete resection is the treatment of choice but local recurrence is common.

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome which is characterized by formation of neurofibromas all over the skin and various other body systems. The anaesthetic management of these patients requires attention to all possible abnormalities and associated disturbances to prevent any peri-operative complication. NF-1-associated complications of the musculoskeletal, respiratory, cardiovascular, central nervous, and gastrointestinal and genitourinary systems present with various degrees of considerations for anaesthesiologists. While evaluating and managing these patients for surgical procedures. NF-1 or von Recklinghausen disease, is an autosomal dominant disease with incidence of approximately 1/3000 births. Gastrointestinal (GI) neoplasms are present in about 2 - 25% of patients of NF-1. In these patients, neurofibromas are the most frequently (52%) diagnosed benign neoplasms. Patients with NF-1 and GI symptoms are at risk for gastrointestinal neoplasms; symptomatic patients are likely to experience significant morbidity. This report describes the anaesthetic of a patient with NF-1 and gastric outlet obstruction.

Patients with orbito-temporal neurofibromatosis (OTNF) bear a heavy burden of surgical care. We studied 47 consecutive patients with OTNF from the French Neurofibromatosis 1 Referral Center cohort (n > 900), over a 15-year period to determine the clinical features most likely to predict repeat surgery and longer duration of surgical care. Forty-seven patients (5.2% of the NF1 patients' cohort) underwent 79 procedures with a 4.8 years average follow-up. Soft-tissue surgery had a high revision rate (19/45 patients), skeletal surgery did not (2/13 patients). Transosseous wire canthopexy and facial aesthetic unit remodeling were associated with stable outcome. Ptosis repair carried an unfavorable outcome, particularly in the presence of sphenoid dysplasia. Stable skeletal remodeling was achieved with polyethylene implants and/or cementoplasty. Multiple procedures were undertaken in 70% of patients and were predicted by the NF volume, canthopexy, skeletal dysplasia, or a Jackson's classification 2 and/or 3; but not by declining visual acuity. A classification based upon predictive risk of repeated procedures is proposed: Group 1: Isolated soft tissue infiltration not requiring levator palpebrae or canthal surgery; Group 2: Soft tissue involvement requiring ptosis repair or canthopexy, or NF great axis over 4.5 cm; Group 3: Presence of sphenoid dysplasia with pulsatile proptosis, regardless of visual acuity., (Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Malignant peripheral nerve sheath tumors (MPNST) are rare. But especially in patients with known neurofibromatosis type 1 (von Recklinghausen), this entity of tumors should not be forgotten. The indication for open biopsy or excision should be made generously. In the following, we report a rare case of MPNST, which highlights the importance of rapid diagnosis and treatment.

Background Context: Spinal implant placement may be challenging in cases of severe cervicothoracic spinal deformities and anatomical anomalies as in Type 1 neurofibromatosis. Intralaminar screwing of the thoracic spine has been described in few cases in which pedicles were hypoplasic. The costovertebral joints have never been used before as an anchorage point for screws., Purpose: The purpose of the study was to describe a new thoracic fixation technique to be used in severe deformities whenever the posterior arch (laminae and pedicles) is not available because of anatomic abnormalities., Study Design: This is a case report., Methods: An 18-year-old woman with progressive tetraparesis caused by increasing deformity of cervicothoracic spine underwent evaluation and surgical treatment: procedure and techniques were described. The clinical features, the radiological findings, and the outcomes were assessed. Complications and local recurrences were also recorded., Results: Costotransverse joint screwing was successfully used in one case of severe cervicothoracic spine deformity with major hypoplasia of the pedicles. The posterior arch of one thoracic vertebra became mobile soon after periosteal stripping probably because of iatrogenic fracture of the only existent pedicle. The four-cortical trajectory of the screws resulted in a good bone purchase allowing the surgeon to complete the procedure. No local or general complications were recorded during 2 years of follow-up., Conclusions: The procedure was used as a salvage technique during a difficult surgery where a local complication forced a change of strategy. Although the implant remained stable long enough to achieve fusion, it still consists of placing a screw through a joint that remains slightly mobile. This could possibly result in a screw loosening in the long period if fusion is not achieved. We suggest the use of this technique when all the other options have been explored and excluded for anatomical reasons., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Objective: To investigate the surgical mode, recurrence and prognosis for patients with head and neck neurofibromas and explore their treatment strategies., Methods: The clinicopathological features, operation mode, prognosis and neural function of 46 patients with head and neck neurofibroma were analyzed retrospectively, and 41 of the cases were followed up for 24-170 months (median 74 months)., Results: Among the 41 followed-up patients, 26 patients were cured and 15 patients were not cured (two died). The cure rate of the neurofibromas with neurofibromatosis type 1 (NF1) and the neurofibromas without NF1 were 42.9% and 85.0%, respectively (P = 0.005). The cure rate of localized, aggressive, diffuse and beaded neurofibromas were 100.0%, 46.6%, 40.0% and 66.7%, respectively (P = 0.009). The cure rate of radical resection (including expanding excision and complete resection) and partial resection were 73.5% and 14.3%, respectively (P = 0.011). The cure rates of expanding excision and partial resection were 80.0% and 14.3% (P = 0.029). The cure rates of complete resection and partial resection were 70.8% and 14.3%, respectively (P = 0.026). However, the cure rates of expanding excision and complete resection were not significantly different (P = 0.581). Multivariate Cox model analysis indicated that thoroughness of surgery was the independent risk factor for the prognosis for patients with head and neck neurofibromas., Conclusions: Neurofibroma is a kind of aggressive benign tumors. Some neurofibromas have a high recurrence rate and low recovery rate, and some nerves are essay to be injured in the operation. Lots of factors impact on the prognosis and recovery of the neural function. Therefore, operation opportunity and mode should be carefully selected.

Pleomorphic xanthoastrocytoma (PXA) is an uncommon tumor of young adults that typically occurs supratentorially. It is generally considered to be a low-grade, circumscribed tumor that when treated by surgical resection has a relatively favorable outcome. Cases of cerebellar PXA are rare, and those associated with neurofibromatosis type 1 (NF1) are even less common, with only 2 cases reported to date. We present herein a third case of PXA-NF1 with unusual features. A 33-year-old woman presented with a history of headache. Her medical and family history was significant for NF1. Brain MRI revealed a 3.4 cm ill-defined lesion with a gyriform enhancing pattern in the left cerebellum, superficially mimicking Lhermitte-Duclos disease. The patient underwent a gross total resection of the lesion and had an unremarkable postoperative course. While the lesion had histological features typical of "pure" PXA (WHO grade II) it had an unusual growth pattern with thickening of the superficial cerebellar folia and predominant leptomeningeal involvement. No BRAF, IDH-1, or IDH-2 mutation was identified. Three months after surgery, local recurrence was detected, and the patient was treated with radiation therapy. One year after the first surgery, she underwent surgical resection of the recurrent/residual tumor. Histologically, the recurrent tumor showed very similar features to the initially resected tumor, with no anaplastic features. Most cerebellar PXAs have an indolent clinical behavior as do most cerebral PXAs. Whether co-existence of NF1 was a factor in altering the clinical course and biologic behavior of this patient's tumor is currently unknown.

Purpose: To describe a successful five-level cervical corpectomy and circumferential reconstruction in a patient with a plexiform neurofibroma causing a severe kyphotic deformity., Methods: Case report., Results: 43-year-old man with history of Neurofibromatosis presented with signs and symptoms of myelopathy with spastic lower extremities and gait difficulties. Imaging studies demonstrated a severe kyphotic deformity of the cervical spine with associated cord compression secondary to an anteriorly positioned plexiform neurofibroma. Two-stage surgical procedure was designed to treat this lesion. Stage I consisted of tracheostomy placement, transmandibular, circumglossal approach to the anterior cervical spine, C2-C6 corpectomies, and C1-C7 reconstruction with a custom titanium cage/plate. Stage II consisted of suboccipital craniectomy, C1-C2 laminectomies, and occipital-cervical thoracic instrumented fusion (O-T8). There were no operative complications, but the patient did develop a small pulmonary embolism post-operatively treated with anticoagulation. Patient required two-weeks of inpatient rehabilitation following surgery. Gastrostomy tube and tracheostomy were successfully discontinued with preserved swallowing and respiratory function. Patient-reported outcome measurements revealed significant and sustained improvement post-operatively., Conclusions: Five-level cervical corpectomy including C2 can be safely and successfully performed via a transmandibular, circumglossal approach. Circumferential reconstruction utilizing a custom anterior titanium cage and plate system manufactured from a pre-operative CT scan was utilized in this case. Long segment occipital-cervical-thoracic reconstruction is recommended in such a case. Using such a technique, improvement in myelopathy, correction of deformity, and improved quality of life can be achieved.

Brain metastases (BMs) from soft tissue sarcoma (STS) are rare but lethal. We reviewed 187 consecutive patients with STS treated with definitive surgery in Nagoya University Hospital from 2004 to 2014. There were 10 patients with neurofibromatosis-1 (NF-1). We investigated estimated brain metastasis free survival (BMFS) after surgery and overall survival (OS) after BMs in STS. The factors that affected BMFS were also investigated. Eight of 187 patients (4.3%) developed BM with a median period of 18.2 (range 8.8-42.6) months after surgery. Seven of 8 BM patients had metastases at other sites. Estimated 5 year BMFS rate after surgery was 95.2%, and 3 month OS rate after BM was 25.0%. NF-1 (p<0.0001), histological subtype of MPNST (p=0.008), and primary tumor size≥5 cm (p=0.021) were significantly associated with increasing incidence of BM. In this study, postoperative BMs were common in patients with NF-1, MPNST, and large tumors. Considering the impact of NF-1 on BMFS, careful follow up for BM is necessary for NF-1 patients with metastases at other sites.

Background: Lumbar anterior meningocele (MC) is rare in patients with neurofibromatosis type 1 (NF1). Although spinal fusion with maximum possible resection of the cele might be indicated in these special cases, reports describing operative procedures are lacking., Clinical Presentation: We present a young woman with NF1 and lower back pain due to lumbar anterior MC, extensive osteolysis, and deformation of the lumbar spine. After Harrington spondylodesis from T12 to S1 in 1989, she developed lumbosacral pseudarthrosis and transcutaneous migration of the spondylodesis. Thus the left pole of the spondylodesis was shortened below the level of L5 in 2005. Years later, the patient presented with lower back pain and wound infection. Imaging revealed the MC and avulsion of the right S1 screw with lumbosacral pseudarthrosis and spondyloptosis, and transcutaneous migration of the right spondylodesis pole. Three-stage surgery was indicated with explantation of the Harrington system in the first step and posterior fusion from T10 to S2 in the second step. Finally, vertebral resection, gathering of the cele, and implantation of a customized titanium cage was achieved through an anterior transabdominal approach. Postoperatively, the patient reported sufficient reduction of lower back pain., Conclusions: Lumbar anterior MC is rare in patients with NF1 and may cause spinal instability. When surgery is indicated, long-range spinal fusion and reduction of the cele should be considered. Surgery may be challenging requiring a staged operative procedure and an interdisciplinary collaboration., (Georg Thieme Verlag KG Stuttgart · New York.)

We encountered a rare case of intraventricular ganglioglioma associated with neurofibromatosis type 1. A 42-year-old woman presented with a feeling of heaviness of the head and dizziness. She was diagnosed with neurofibromatosis type 1 because she had multiple subcutaneous neurofibromas and café au lait spots. On admission, she deteriorated slightly(Japan Coma Scale 1)and suffered from cognitive dysfunction and right hemiparesis. A computed tomography(CT)scan showed that she had an obstructed hydrocephalus with a long and circular mass lesion, 2cm in diameter, in the anterior horn of the left lateral ventricle. The mass showed low signal intensity(SI)on the T1-weighted image(WI), heterogeneous high SI on the T2-WI, and dense enhancement on a Gd-DTPA contrast MRI, extending from the head of the left caudate nucleus to the lateral ventricle. The patient underwent an urgent operation via an anterior transcallosal approach because of an obstructed hydrocephalus. The tumor was removed in its entirety, including its origin at the caudate head. The pathological diagnosis was a ganglioglioma grade 1 according with the classification of the World Health Organization. Here we describe this case and discuss the rare association between gangliogliomas and neurofibromatosis type 1.

Background/objective: Decisions to use open surgery or radiotherapy in pediatric patients with familial neoplastic syndromes must consider not only the symptomatic benefits of treatment, but also future limitations these treatments may impose. Specifically, open surgical resection of noncurable tumors may preclude or encumber future lesion resections, while radiotherapy has detrimental effects on pediatric cognitive development and increases the risk of future malignancy development. We provide the first report of using a novel 3.0-mm diffusing laser tip with laser-induced thermal therapy (LiTT) to treat a pediatric patient with neurofibromatosis type 1 (NF-1)., Methods: A 12-year-old boy with NF-1 presented with a progressively enlarging lesion in the right midbrain. A stereotactic biopsy was performed, followed by LiTT with a novel 3.0-mm laser applicator., Results: MRI 1 week after LiTT showed stable gross total ablation of the lesion with reduction in fluid-attenuated inversion recovery signal. The patient remained neurologically intact 6 months after his procedure, and follow-up MRI showed no evidence of recurrence., Conclusion: LiTT is a powerful adjunct to conventional open surgical and radiotherapy modalities in the treatment of patients with familial neoplastic syndromes or incurable lesions. The novel laser applicator tip described expands the treatment scope of this technique., (© 2015 S. Karger AG, Basel.)

The authors report a rare case of Horner syndrome in a patient with neurofibromatosis type 1 (NF-1). A 31-year-old man visited the clinic with drooping left eyelid. The physical examination revealed ptosis of the left eyelid, miotic pupil, facial anhidrosis, and several skin masses on the chest. The radiological examination of the chest demonstrated a well-defined left posterior mediastinal mass close to the vertebral bodies of the upper thoracic spine at the level of T1-T5. The masses of mediastinum and skin were totally removed. They were diagnosed as neurofibromas. Neurofibromatosis type 1 was diagnosed. To the best of my knowledge, this is a rare case of a patient with NF-1 who presented with Horner syndrome. Clinicians should be vigilant on the possibility of Horner syndrome in patients with NF-1.

Background: Few studies have evaluated the efficacy of carbon dioxide (CO2) laser ablation for treating neurofibromatosis type 1 (NF1)., Objective: To evaluate laser treatment safety and patient satisfaction at the French National Referral Centre for Neurofibromatosis., Methods: Retrospective survey with a specific questionnaire. The principal outcome measures included pain evaluation and assessments of treatment safety., Results: We included 106 patients, 70% of whom had more than 50 neurofibromas. Laser treatment was performed mostly for aesthetic reasons, or due to pain, recurrent local trauma or familial influence, under a local anaesthetic, during outpatient visits. The mean pain score was 4.0 ± 2.7 during the administration of local anaesthesia, 2.4 ± 2.1 during laser treatment and <2 48 h after treatment in 56% of cases. The mean satisfaction score for the treatment was 4.6 ± 3.4 and was not associated with disease phenotype., Conclusions: CO2 laser treatment for NF could be considered more frequently and might help to decrease the social impact of the disease.

Orbital manifestations occur in less than 1% of patients with neurofibromatosis type 1 (NF1). These manifestations are frequently associated with sphenoid wing dysplasia. The typical radiologic feature is partial or total loss of the greater wing of the sphenoid bone, which leads to herniation of the temporal lobe through the orbital cavity resulting in proptosis and pulsating exophthalmos. Traditional reconstruction of this bone defect involves split bone grafting or titanium mesh. However, these techniques have some limitations due to bone resorption and infection risk. We report the use of 0.85 mm titanium-reinforced porous polyethylene implant sheet in three cases of orbital neurofibromatosis with sphenoid dysplasia. The role of this material was to create a barrier between the brain and orbital cavity. The implant sheet was modeled intraoperatively to reconstruct the orbital cavity anatomy and fitted without any screws. The malleability of the implant allows quick reconstruction of the curved orbital skeleton. Furthermore, the implant doesn't interfere with postoperative imaging and may decrease risk infection., (Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Ganglioneuroma is a rare, benign tumor originating from the sympathetic ganglion cells. Choroidal ganglioneuroma in association with neurofibromatosis type 1 (NF-1) has been reported in a few cases. This study describes a 21-year-old woman with orbitopalpebral NF, who underwent evisceration for pseudophakic bullous keratopathy, intractable glaucoma, and absolute painful eyes and who was found to have choroidal ganglioneuroma and retrobulbar plexiform neurofibroma on histologic examination. This case, together with the previously described cases, suggests that eyes with choroidal ganglioneuromas may have some common clinical and prognostic characteristics, although this condition cannot be diagnosed preoperatively. In patients with NF-1 who may undergo eye removal surgery, the possibility of choroidal tumors should be kept in mind.

Neurofibromatosis, otherwise known as von Recklinghausen disease, is a congenital hereditary disorder involving tissues of neuroectodermal or mesodermal origin. Involvement of the coronary arteries is, however, extremely rare. To the best of our knowledge, this represents the first report of off-pump coronary artery bypass grafting using the bilateral internal mammary arteries for coronary arterial vasculopathy in a patient with neurofibromatosis and of the longest reported follow-up of such a case after bypass surgery., (© The Author 2014. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Aim: Gastrointestinal manifestations occur in up to 25% of patients with neurofibromatosis type 1. This review reports all published cases of acute intestinal obstruction due to neurofibromatosis type 1 and identifies mechanisms of obstruction, the nature of the tumour and the outcome., Method: A systematic review of the literature on acute intestinal obstruction due to neurofibromatosis type 1 was performed by searching the major electronic databases. All relevant references were reviewed for possible inclusion. All the references of the relevant articles were screened for any further articles that were missed in the initial search., Results: We identified 25 articles from 1972 to 2013 reporting 25 patients with von Recklinghausen's disease who underwent laparotomy for acute intestinal obstruction. Three further patients were operated on in our institution. The mean age of the patients was 44.2 years and the male/female ratio 15/13. The mechanisms of obstruction were intrinsic obstruction (16), extrinsic obstruction (8) and intussusception (4). Histology was reported to show neurofibroma (19), gastrointestinal stromal tumour (5) and adenocarcinoma (4). Among patients whose outcome was mentioned (17), 10 were asymptomatic after a mean follow-up of 1.5 years., Conclusion: Acute bowel obstruction is a rare manifestation of neurofibromatosis type 1. Surgery is often necessary to treat the complication and to determine the exact nature of the tumour and the prognosis., (Colorectal Disease © 2014 The Association of Coloproctology of Great Britain and Ireland.)

Large lesions of the thoracic inlet represent a significant challenge to surgeons due to their close relationship with important adjacent neurovascular structures. We report a case of neurofibromatosis type 1 presented with a large neurofibroma located in the right thoracic inlet, and a malignant peripheral nerve sheath tumor in the right clavicle and treated with a hybrid thoracoscopic anterior transclavicular approach to remove the tumors. Combination of thoracoscopic and minimal chest wall resection may serve as a feasible option for resection of the large and benign thoracic inlet tumor in a way of minimal invasiveness and safety., (Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Neurofibromatosis type 1 can rarely present in the larynx. Patients typically do not present with complete obstructive symptoms, but partial obstruction and stridor. We review our health centers' case series of two patients, the first of whom presented with persistent sleep apnea post tonsillectomy and adenoidectomy, and the second who presented with noisy breathing. Additionally, we will review the literature on the management and treatment options for children with this rare clinical entity., Methods: Retrospective case review., Case Report & Results: A two-year old male underwent a sleep endoscopy following persistent evidence of obstructive sleep apnea on polysomnography after initial tonsillectomy and adenoidectomy. Family elicited concerns about noisy breathing at night and an accompanying video documented stridor while sleeping during the monitored polysomnography. Flexible fiberoptic laryngoscopy in the operating room revealed what appeared to be a cystic mass along the right aryepiglottic fold causing deviation of the laryngeal introitus towards the contralateral side. Subsequent direct laryngoscopy and excisional biopsy revealed pathology results consistent with a plexiform neurofibroma. A six-month-old patient with stertor and stridor was found to have a laryngeal mass, subglottic stensosis, and progressive airway obstruction due to plexiform neurofirboma in the supraglottis, subglottis, and trachea. We present a series of two patients incidentally diagnosed with neurofibromatosis type 1 by way of a laryngeal neurofibroma and review the literature on management options. Both patients were found to have accompanying café au lait spots. Both patients required tracheostomy for airway management, and one was successfully decannulated., Conclusion: Laryngeal neurofibroma is a rare anomaly that can manifest with airway obstruction. Both patients presented here subsequently were noted to have café au lait spots on physical examination. The Otolaryngologist should be reminded of this anomaly when evaluating a child with evidence of a submucosal laryngeal mass. We present our series including that of a patient whose diagnosis was prompted by persistent sleep apnea following adenotonsillectomy tonsillectomy and a patient with airway obstruction and subglottic stenosis due to a neurofibroma. The treatment of choice is complete excision of the neurofibroma while maintaining functionality of the larynx. This can lead to successful decannulation., (Published by Elsevier Inc.)

Spinal pseudarthrosis is a well described complication of spine fusion surgery in NF1 patients. Reduced bone formation and excessive resorption have been described in NF1 and anti-resorptive agents may be advantageous in these individuals. In this study, 16 wild type and 16 Nf1(+/-) mice were subjected to posterolateral fusion using collagen sponges containing 5 µg rhBMP-2 introduced bilaterally. Mice were dosed twice weekly with 0.02 mg/kg zoledronic acid (ZA) or sterile saline. The fusion mass was assessed for bone volume (BV) and bone mineral density (BMD) by microCT. Co-treatment using rhBMP-2 and ZA produced a significant increase (p < 0.01) in BV of the fusion mass compared to rhBMP-2 alone in both wild type mice (+229%) and Nf1(+/-) mice (+174%). Co-treatment also produced a significantly higher total BMD of the fusion mass compared to rhBMP-2 alone in both groups (p < 0.01). Despite these gains with anti-resorptive treatment, Nf1(+/-) deficient mice still generated less bone than wild type controls. TRAP staining on histological sections indicated an increased osteoclast surface/bone surface (Oc.S/BS) in Nf1(+/-) mice relative to wild type mice, and this was reduced with ZA treatment., (© 2014 Orthopaedic Research Society. Published by Wiley Periodicals, Inc.)

One patient of neurofibromatosis type I originating from the pterygopalatine fossa and salivary gland underwent surgery in our department. At the outset, the case was misdiagnosed as arising from salivary gland tumors, and surgery was immediately performed. The tumor was entered directly, which induced ferocious bleeding. The subsequent hemostasis with tamponade and compression caused intracranial venous sinus thrombosis, which induced irreversible intracranial complications and finally resulted in death. The experience regarding the diagnosis and treatment of the case was retrospectively reviewed and shared in this article.

Spontaneous hip dislocation due to intraarticular neurofibroma in patients with neurofibromatosis type 1 is extremely rare. We describe the imaging features of spontaneous dislocation of hip due to histologically proven intraarticular neurofibroma in young woman with neurofibromatosis type 1, and review the literature.

We report the case of a 19-year-old man with neurofibromatosis type 1 who presented for evaluation of odynophagia, left-sided hemiparesis, multiple café au lait spots all over his body, and numerous subcutaneous and cutaneous neurofibromas. Imaging revealed the presence of two large neurofibromas-a 60 × 50 × 35-mm tumor in the left parapharyngeal space and an intradural tumor measuring 25 mm in diameter. We removed the larger tumor via a transoral route with the Harmonic Scalpel. The size of this tumor far exceeded the size of any other reported tumor removed in this manner. Various approaches to the parapharyngeal space have been described in the literature. To the best of our knowledge, this case represents the first report of a transoral removal of a huge parapharyngeal space neurofibroma with a Harmonic Scalpel.

We report the case of a 25-year-old male with Neurofibromatosis type I (NF-1), who presented at the time of admission with clinical findings of an acute abdomen caused by a mechanical obstruction. Computerized tomography showed a volvulus of the terminal ileum with mesenteric swirling as the cause of the patient's symptoms. Consecutive exploratory laparotomy confirmed the diagnosis and 70 cm of the small intestine was resected due to an affection of the mesentery by multiple neurofibromas. The gastrointestinal tract is affected in approximately 10% of patients with NF-1, however the mesentery is almost always spared. Here we describe the unique case of a patient with a volvulus caused by mesenteric manifestation of von Recklinghausen's disease, emphasizing the role of surgery in a team of multidisciplinary specialists to treat this multiorganic disease.

With a prevalence of 1 in 3,000 births, neurofibromatosis type 1 (NF1) is one of the most common genetic disorders and is characterized by an uninhibited expansion of neural tissue. Occasionally, severe deformities occur, but frequently considerable cosmetic disfigurement is caused by the development of hundreds of benign cutaneous neurofibromas. The objective of this study was to evaluate the erbium:yttrium-aluminium-garnet (Er:YAG) laser as a therapeutic option for the removal of multiple cutaneous neurofibromas. In this prospective, comparative, in vivo study, 15,580 neurofibromas (44 operations on 21 patients) were removed via electrosurgery, CO2- or Er:YAG laser ablation. In 12 adjacent test areas, we compared the zone of thermal necrosis, the postoperative pain, the time to reepithelialization, the duration of postoperative erythema and the cosmetic outcome of these surgical methods. When compared to electrosurgery and CO2 laser ablation, the Er:YAG laser ablation outperformed the other methods of tumor removal. Rapid healing by second intention as well as the minimal discomfort and scar formation following Er:YAG laser ablation were noted. After 36 months of follow-up, permanent dyspigmentation was rare and hypertrophic scarring was not observed. Er:YAG laser vaporization of multiple cutaneous neurofibromas is a simple and rapid procedure that results in significantly better cosmetic results than CO2 laser treatment or electrosurgery.

A 37-year-old woman with neurofibromatosis type 1 was referred for a rapidly growing plexiform neurofibroma of the left lower leg, acute serious pain, and leg palsy because of concern for malignant transformation of the tumor. Contrast-enhanced computed tomography confirmed a rupture of anterior tibial artery aneurysm, resulting in both anterior and posterior compartment syndrome in her left leg. Arterial involvement in neurofibromatosis is a well known; however, rupture of peripheral arteries is exceptional. Moreover, coexistence with plexiform neurofibroma occasionally delays the diagnosis with suspicion of malignant transformation without awareness of a vascular rupture., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Proliferation of non-neoplastic striated muscle cells in the lung is rare and has been frequently observed in cases of cardiovascular and pulmonary congenital malformations. We present an extremely rare case of pulmonary rhabdomyomatous dysplasia (RD) in neurofibromatosis type 1 (NF-1). A male neonate was born at 35 weeks' gestation after normal pregnancy. Postnatally, besides patent ductus arteriosus and posterior mediastinal mass, abnormal cystic lesions in the left upper and lower lung were detected. No bronchial atresia and stenosis were identified. Partial lobectomy specimens showed hypoplastic lung parenchyma with cystic lesions resembling terminal bronchioles and distinctive proliferation of non-neoplastic striated muscle fibers in the interstitium. The posterior mediastinal mass consisted of neurofibroma. Considering that café au lait spots and freckling occurred at 2 months of age, a diagnosis of NF-1 was made. The patient died of aspiration pneumonia at the age of 30 months. To the best of our knowledge, this is the first case of pulmonary RD in NF-1., (Copyright © 2013 Elsevier GmbH. All rights reserved.)

Benign peripheral nerve sheath tumors (PNSTs) showing more than one line of differentiation (hybrid PNSTs) have been increasingly recognized, mainly due to awareness of their existence and as a consequence of increased use of immunohistochemisty during the last decade. Two recent studies suggested overrepresentation of hybrid tumors among benign PNSTs in patients with neurofibromatosis type 1 (NF-1). This study was performed to assess the presence of perineurial cells in microscopic (early) neurofibromatous lesions and normal-looking peripheral nerves in specimens from 5 patients with NF-1 using markers of perineurial cell differentiation (epithelial membrane antigen, claudin-1, and glucose transporter 1). In 2 patients, multiple normal looking nerve fibers as well as hypertrophied nerves and microscopic tumor nodules showed variable intraneural perineurial cell proliferations that frequently occupied the whole nerve fascicle resulting in multiple microscopic reticular perineurioma-like nodules (microscopic hybrid neurofibromatosis/perineuriomatosis). None of the cases showed the onion skin pattern of intraneural perineurioma. However, other nerve fibers within the same specimens showed normal compact rim of perineurium without any detectable intraneural perineurial cells. Both patients had concurrent multiple larger PNSTs (plexiform neurofibromas, hybrid neurofibroma/perineurioma and lesions with features intermediate between the 2 types). One specimen harboring high-grade malignant PNST and 2 specimens with large solitary neurofibromas displayed no intraneural perineurial cells. These observations suggest that intraneural perineurial proliferations are part of the early lesions in the setting of constitutional NF-1 inactivation and support the concept of pure and hybrid perineuriomatous lesions as novel member of the spectrum of PNSTs in NF-1., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Background: The study aimed to review the presentation and long-term visual outcomes of patients with orbitotemporal neurofibromatosis., Design: Retrospective case series., Participants: Patients with orbitotemporal neurofibromatosis presenting from 1981 to 2009., Methods: Demographic data, examination findings, causes of vision impairment and interventions performed were recorded for each patient from presentation through subsequent follow-up encounters. Visual impairment was defined as an ipsilateral Snellen acuity of <6/12., Main Outcome Measures: The proportion of patients with visual impairment or enucleation, the rate of new vision loss during follow up; and causes for vision loss or enucleation., Results: Thirty-seven patients (17 female) were included. Median presenting age was 15 years (range 2-45) with an average follow up of 7.4 years (range 0.5-20.3). Visual impairment occurred in 54% of patients at presentation. Causes were amblyopia (13 of 37), optic atrophy (4 of 37), previous enucleation/evisceration (2 of 37), and optic nerve glioma (1 of 37). At presentation, 76% of patients had ptosis, and 51% had strabismus. Thirty-one patients had surgery, with an average of two procedures per patient. At final follow up, 62% had visual impairment. The rate of visual decline was 2% per patient-years. Causes of visual decline were two patients with optic nerve atrophy, one with exposure keratitis and one whose cause was unknown. Five blind patients had enucleation., Conclusions: The first series of orbitotemporal neurofibromatosis to focus on visual outcomes was presented. Vision loss is common, with a high prevalence of amblyopia. Close monitoring from an early age is needed to prevent visual impairment., (© 2013 Royal Australian and New Zealand College of Ophthalmologists.)

Introduction: Data support use of video-assisted thoracoscopic surgery (VATS) for safe and effective resection of paraspinal masses in children. Our aim was to describe outcomes following this operation using a novel technique and to compare its use with that of other established techniques., Subjects and Methods: We performed a retrospective chart review of all children (<18 years old) undergoing thoracoscopic resection of paraspinal masses in 2000-2011. Demographics, operative details, and clinical outcomes were summarized and compared between those undergoing resection using a Harmonic (Ethicon Endo-Surgery, Blue Ash, OH) blade scalpel (HBS) and those who did not., Results: Sixteen cases were identified (median age, 57.5 months; range, 2-204 months). Six cases (37%) underwent VATS with use of the HBS, and 10 (63%) did not. Demographic and clinical factors were well matched. Median tumor diameter was larger in the HBS group (49.2 cm(3) versus 18.7 cm(3); P=.07). Operative time was similar between groups (121 versus 138 minutes; P=.25), as was the estimated blood loss (10 mL versus 30 mL; P=.91) and chest tube duration (2.1 versus 1.8 days; P=.78). Three cases of Horner's syndrome developed in the standard resection group, and one complication occurred in the HBS group., Conclusions: The Harmonic blade scalpel can be used as a simple alternative to standard dissection techniques for thoracoscopic resection of paraspinal masses in children.

We present the case of a 23-year-old female with benign intrathoracic vagal neurofibroma associated with von Recklinghausen's disease. We reviewed 87 other neurogenic tumors of the intrathoracic vagus nerve and discuss the incidence rate of complications, especially the relationship between tumor location, tumor size, and preservation of the nerve in this case report., (Georg Thieme Verlag KG Stuttgart · New York.)

It is well known that neurofibromatosis type 1 (NF1) is uncommonly associated with pheochromocytoma development and also, to a larger extent, with gastrointestinal stromal tumors (GISTs). We herein document three cases with the rare condition of NF1 coexisting with GIST and pheochromocytoma, while one of them also has a composite tumor and another has papillary thyroid carcinoma.

Neurofibromatosis type 1 is an autosomal dominant genetic disease, which belongs to the neuro-oculo-cutaneous syndromes (phakomatoses). The authors present a case of a girl with familial neurofibromatosis. In addition to typical skin lesions and Lisch nodules on the iris, the plexiform neurofibroma of the upper eyelid and orbit as well as hamartoma of the central nervous system were observed. Due to the massive infiltration of the left upper eyelid causing its complete ptosis and, in turn, the amblyopia of the left eye, the tumour was partially rexcised. This lesion is not totally removable in most cases due to the early development of neurofibroma during the fetal period and its strong adhesion to the healthy tissues. A massive eyelid infiltration causing amblyopia and dissociation of binocular vision is an indication for early surgery.

Objectives: Patients with Type I neurofibromatosis scoliosis with intra-canal rib head protrusion are extremely rare. Current knowledge regarding the diagnosis and treatment for this situation are insufficient. The purpose of this study is to share our experience in the diagnosis and surgical treatments for such unique deformities., Methods: Six patients with Type I neurofibromatosis scoliosis with rib head dislocation into the spinal canal were diagnosed at our institution. Posterior instrumentation and spinal fusion without intra-canal rib head resection via a posterior-only approach was performed for deformity correction and rib head extraction. The efficacy and outcomes of the surgery were evaluated by measurements before, immediately and 24 months after the surgery using the following parameters: coronal spinal Cobb angle, apex rotation and kyphosis of the spine and the intra-canal rib head position. Post-operative complications, surgery time and blood loss were also evaluated., Results: Patients were followed up for at least 24 months post-operatively. The three dimensional spinal deformity was significantly improved and the intra-canal rib head was significantly extracted from the canal immediately after the surgery. At follow-up 24 months after surgery, solid fusions were achieved along the fusion segments, and the deformity corrections and rib head positions were well maintained. There were no surgery-related complications any time after the surgery., Conclusions: Systematic examinations are needed to identify patients with Type I neurofibromatosis scoliosis with rib head dislocation into the canal who can be treated by posterior-only spinal fusion without rib head resection.