INTRODUCTION

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited condition seen in one of 4000 live births, predisposing to peripheral and central neurofibromas. Spinal tumors are seen in 40% of cases with NF1 and only 2% will develop symptoms, and among those who develop symptoms where 33% showed intradural extramedullary location. Thoracic spinal dumbbell neurofibroma is even rarer, and cases that extend to obliterate the posterior mediastinum even more so, with the case presented being the largest in size documented to date.

A 34-year-old female presented since childhood clinical findings consistent with Neurofibromatosis Type I: generalized cafe-au-lait macules, axillary freckling, cutaneous neurofibromas, two iris Lisch nodules identified via slit lamp examination, and anterolateral bowing of the right tibia, and no known parental history of Neurofibromatosis Type I. Prior to admission, the patient presented with progressive loss of motor strength of the lower extremities, and progressive dyspnea. Work-up revealed a Thoracic Intradural Extramedullary Neurofibroma extending to the Right Posterior Mediastinum measuring 15.3 cm x 12.9 cm x 9.7 cm in the thoracic cavity compressing the right lung and bronchus. An extensive two stage surgery was contemplated involving an initial resection of the Intradural mass, with spine instrumentation for support, and subsequent resection of the mediastinal extension. However, complications from the compressing tumor: complete cord transection syndrome causing spinal autonomic dysfunction, lung and airway compromise causing prolonged intubation and difficulty in weaning from mechanical ventilatory support, extensive thrombus formation in the right jugular vein, and nosocomial infections all created compounding difficulties for the surgical technique and anesthetic plan.

Cornerstone management for dumbbell spinal neurofibromas involves their total removal. The best results are obtained in patients showing minimal neurological deficits during the preoperative period. However, little improvement may be expected from patients who develop complete transection syndrome during the postoperative period. Concurrent medical management to prepare the patients are equally important. The multi-subspecialty approach required in managing these cases entails a good balance between the disability before the surgery, anticipated outcomes, and quality of life of the patients.

Neurofibromatosis Type 1 （NF1） is an autosomal dominant hereditary neurological disorder. One of the typical manifestations of NF1 is neurofibroma, which can develop gradually over time. When the volume exceeds 100 cm², it is referred to as giant neurofibroma, representing a tumor-like proliferation of Schwann cells within the nerve fiber sheath. The Department of Otolaryngology at the Affiliated Hospital of Guangdong Medical University received a rare case involving a patient with giant neurofibromatosis affecting the maxillofacial region, neck, and chest. The patient underwent successful surgical treatment with the collaboration of various medical disciplines.
Humans ; Head and Neck Neoplasms/surgery* ; Neck ; Neurofibromatoses ; Neurofibromatosis 1/surgery* ; Thoracic Neoplasms/surgery*

Objective:To analyze the clinical characteristics and risk factors of postoperative first bite syndrome（FBS） after parapharyngeal space surgery, and to provide evidence-based recommendations for the diagnosis and management of this complication. Methods:A retrospective analysis was conducted on 142 patients undergoing parapharyngeal space surgery from March 2016 to November 2024, including 12 cases of postoperative FBS. Univariate analysis compared differences in tumor location, pathological type, and surgical approach between FBS and non-FBS groups. Multivariate logistic regression identified independent risk factors. A systematic literature review evaluated the preventive value of transoral endoscopic surgery for FBS, followed by proposed clinical optimization strategies. Results:The incidence of FBS was 8.45%（12/142）. Univariate analysis revealed significant associations with: Superior parapharyngeal space tumors（OR=3.21, 95%CI 1.12-9.21, P=0.029）; Schwannoma pathology（OR=4.05, 95%CI 1.35-12.18, P=0.013）; Traditional lateral cervical approach（OR=5.67, 95%CI 1.89-17.02, P=0.002）. Multivariate analysis confirmed lateral cervical approach（aOR=4.98, 95%CI 1.62-15.31, P=0.005） and schwannoma（aOR=3.75, 95%CI 1.22-11.51, P=0.021） as independent risk factors. Literature review suggested lower FBS rates with transoral endoscopic approaches. The overall effect of the drug on FBS is poor. Conclusion:FBS is a frequent complication of parapharyngeal space surgery, significantly associated with tumor location, pathology, and surgical approach. Transoral endoscopic surgery can effectively reduce the risk of FBS through precise anatomical dissection that minimizes sympathetic nerve injury. Minimally invasive approaches are recommended for eligible cases.
Humans ; Retrospective Studies ; Postoperative Complications/etiology* ; Risk Factors ; Endoscopy ; Parapharyngeal Space/surgery* ; Male ; Female ; Adult ; Middle Aged ; Neurilemmoma/surgery*

Objective:To summarize the initial experience and evaluate the technical feasibility of the endoscopic transcanal transpromontorial approach（TTA） for vestibular schwannoma resection by analyzing long-term follow-up outcomes. Methods:A retrospective analysis was conducted on the perioperative and long-term follow-up data（mean follow-up time: 5 years） of patients who underwent endoscopic TTA for vestibular schwannoma resection in the Department of Otorhinolaryngology Head and Neck Surgery at Xiangya Hospital, Central South University, between January 2020 and December 2020. Long-term outcomes were systematically evaluated. Results:This study included two patients（one 41-year-old male and one 51-year-old female）. According to the AAO-HNS hearing classification system, preoperative hearing was Class C in one patient and Class D in the other. Preoperative imaging confirmed Koos stageⅠ tumors in both cases. Postoperative transient facial nerve paralysis（House-Brackmann Grade Ⅲ） recovered to Grade Ⅰ within 4 months. No complications such as cerebrospinal fluid leakage, intracranial infection, or intracranial hemorrhage occurred. No tumor recurrence was observed during the 5-year follow-up period. Conclusion:The endoscopic transcanal transpromontorial approach is minimally invasive, facilitates rapid recovery, and demonstrates satisfactory technical feasibility and safety when strict patient selection criteria（Koos stageⅠtumors with non-serviceable hearing） are applied.
Humans ; Neuroma, Acoustic/surgery* ; Male ; Adult ; Middle Aged ; Retrospective Studies ; Female ; Endoscopy/methods* ; Follow-Up Studies ; Treatment Outcome

Neurofibromas are benign peripheral nerve sheath tumors. It is more common in neurofibromatosis type Ⅰ. However, isolated vagal nerve neurofibroma（VNN） of the neck is extremely rare, and only a few case reports have been reported. Its etiology and pathogenesis are not clear. The diagnosis is mainly based on pathological examination and immunohistochemistry, and surgical resection is the main treatment. This study reports a rare case of giant solitary vagus neurofibroma in the neck. The patient was a 29-year-old female who was found to have a mass on the right side of the neck by physical examination, which was considered to be a vagus nerve tumor by neck ultrasound and imaging examination. The tumor was completely removed during the operation, with the size of about 10.0 cm×2.5 cm, and the patient had no special discomfort. Postoperative pathology and immunohistochemistry confirmed neurofibroma. After surgery, the patient had right vocal cord paralysis, hoarseness, choking and paroxysmal cough. After swallowing function training and voice rehabilitation treatment in the department, the patient recovered satisfactorily. There was no complication and recurrence during the follow-up of 1 year. This article reviews the literature to improve the diagnosis and treatment of solitary vagus neurofibroma in the neck by combining its medical history, imaging features, pathology and immunohistochemistry, and surgical treatment.
Humans ; Female ; Adult ; Neurofibroma ; Vagus Nerve/pathology* ; Neck ; Cranial Nerve Neoplasms

Sigmoid colon schwannoma is a rare benign gastrointestinal tumor that is challenging to be diagnosed preoperatively.This paper reported a case of sigmoid colon schwannoma that was preoperatively misdiagnosed as a gastrointestinal stromal tumor on ultrasonography.Intraoperative frozen section analysis identified it as a spindle cell tumor,with definitive diagnosis confirmed as gastrointestinal schwannoma via immunohistochemistry.This paper summarizes the similarities and differentiating features of intestinal stromal tumors and schwannomas on ultrasonographic imaging.By analyzing and discussing previous literature,we aim to enhance the diagnostic and differential diagnostic capabilities of ultrasonographers in preoperative evaluation of intestinal schwannomas,thereby providing reliable evidence for clinicians in the diagnosis and management of this condition.
Humans ; Neurilemmoma/diagnostic imaging* ; Ultrasonography ; Sigmoid Neoplasms/diagnostic imaging* ; Male ; Colon, Sigmoid/diagnostic imaging* ; Middle Aged ; Female ; Diagnosis, Differential

Perineurioma (PN) is an uncommon benign tumor originating from the peripheral nerve sheath and composed solely of perineurial cells. Most PNs occur sporadically and are typically described as painless masses. This report presents an atypical case of extraneural or soft tissue PN (ESTP) in a 37-year-old Filipino female with a history of trauma. The patient presented with a 5-month history of a gradually enlarging nodule on her right thumb accompanied by localized dull pain. Physical examination revealed the presence of an ill-defined, slightly erythematous, firm, movable, and tender nodule. Histopathological analysis demonstrated characteristic features of ESTP, including spindled cells arranged in a whorled pattern. Immunohistochemical staining for epithelial membrane antigen was positive, while S-100 staining was negative, which confirmed the diagnosis. The nodule was successfully excised without any complication. There was no recurrence observed during the 4thmonth postexcision. This case highlights the importance of considering ESTP as a potential diagnosis for painful masses following trauma and suggests a possible association between ESTP and trauma. Surgical excision remains the preferred treatment option for ESTP, and recurrences are infrequent.

Human ; Female ; Adolescent: 13-18 Yrs Old ; Nerve Sheath Neoplasms ; Peripheral Nerves ; Neoplasms

OBJECTIVE

To present a long-term follow-up report of a 10-year-old male with optic nerve glioma who underwent surgical removal and postoperative chemotherapy.

Case report.

A 10-year-old Filipino boy was referred to a tertiary institution for a five-year history of progressive right eye proptosis with vision loss. Pertinent findings included right eye proptosis, lagophthalmos, and limited elevation and adduction. He also had several hyperpigmented lesions on the abdomen and upper torso. Vision on the right was no light perception, with a relative afferent pupillary defect, exposure keratopathy, and optic nerve pallor. Vision on the left eye was 20/20 with a temporal visual field defect. Cranial and orbital computed tomography (CT) scan showed a circumscribed enhancing mass within the right intraconal space with widened right optic nerve canal. Additional magnetic resonance imaging (MRI) revealed a heterogeneously enhancing mass diffusely involving the intraorbital and intracanalicular segments of the right optic nerve suspicious for optic nerve glioma. He underwent excision of the orbital portion of the mass via lateral orbitotomy. Histopathology showed pilocytic astrocytoma. Eight cycles of chemotherapy with carboplatin and vincristine was completed. Significant improvement of globe position and resolution of ocular exposure was achieved postoperatively with residual right ptosis. These findings remained stable at six years after treatment.

Optic nerve gliomas with intracanalicular and chiasmal extension can be managed with surgical removal of the orbital component and postoperative chemotherapy. This can result in improvement of proptosis and long-term remission.

Neurofibromatosis is a systemic disorder that presents with cafe-au-lait spots, intertriginous freckling, neurofibromas, optic pathway tumors, lisch nodules, and distinct osseous lesions. We present a case of a 57-year-old Filipino female with a lifelong history of multiple bumps on the skin. Clinical, dermoscopic, and histopathologic findings confirmed our diagnosis.

A multidisciplinary approach is the cornerstone of management of Neurofibromatosis Type 1. Surgical excision can be performed on symptomatic lesions, but the recurrence can occur. In April 2020, Koselugo (selumetinib) was approved by the U.S. Food and Drug Administration (FDA) for the treatment of NF1-associated plexiform neurofibromas that are disfiguring or inoperable in children 2 years and older. The outlook for patients with NF-1 is guarded and depends on the severity of the disease, the presence of malignancy, and the extent of the deformity.