Prechiasmatic Transection of the Unilateral Dodge Class â Optic Pathway Glioma without Neurofibromatosis Type 1: Technical Description and Clinical Prognosis.

OBJECTIVE: For unilateral Dodge Class Ⅰ optic pathway glioma (OPG-uDCⅠ) without neurofibromatosis type 1, unilateral isolated optic nerve gliomas before the optic chiasm have been confirmed to possibly cause visual deterioration and poor prognosis. For this type of highly selective localized tumor, we explored surgery as the only treatment method. This article retrospectively analyzed and summarized the clinical data of this case series, with the aim of exploring the main technical details and clinical prognosis. METHODS: Included were patients with OPG-uDCⅠ without neurofibromatosis type 1 and experiencing vision loss on the affected side. The fronto-orbital approach was used, which was mainly divided into 3 parts: intraorbital, optic canal, and intracranial. All patients underwent prechiasmatic resection without any adjuvant treatments. The follow-up period was 3 months after surgery, and magnetic resonance imaging and contralateral visual acuity were reviewed annually after surgery. RESULTS: All OPG-uDCⅠ cases were completely removed without any adjuvant treatments, and there was no recurrence during the follow-up period. Pathological results showed that, except for 1 adult patient with pilomyxoid astrocytoma (World Health Organization grade Ⅱ), the others all had pilocytic astrocytoma (World Health Organization grade Ⅰ). Five patients experienced transient ptosis, and all recovered 3 months after surgery. CONCLUSIONS: For OPG-uDCⅠ without neurofibromatosis type 1, radical prechiasmatic resection of the tumor is possible, without the need for postoperative radiotherapy and chemotherapy.

Spinal Ganglioneuroma: A Systematic Review of the Literature.

OBJECTIVE: Spinal ganglioneuromas (GNs) are rare benign tumors that often manifest as symptoms related to the compression of neural elements. The preferred treatment for affected patients is surgical resection, which typically improves symptoms and accompanies a low likelihood of tumor recurrence. We conducted a systematic review of reports of GNs involving the spinal cord and nerve roots, examining their clinical presentation, surgical management, and outcomes. METHODS: Using the keywords "ganglioneuroma" and "spinal," we conducted a systematic database review of MEDLINE (PubMed), Scopus, and Embase, querying studies reporting cases of spinal GNs. Patients' demographics, location of the tumors, clinical features, and surgical outcomes were extracted from eligible articles. RESULTS: A total of 93 spinal GN cases in 52 case reports/series met our criteria. Data analysis revealed a general male predominance, though thoracic spinal GNs were seen more in females. The mean age of patients with cervical, thoracic, thoracolumbar, and lumbar spinal GNs were 41.28, 27.65, 15.61, and 38.73 years, respectively. Multiple-level GNs were mostly seen in male patients or individuals with neurofibromatosis type 1. In all but 1 case, recurrence and reoperation were not reported in the short-term (months) and long-term (2-10 years) follow-up. CONCLUSIONS: We found unique epidemiologic characteristics for patients with GNs of different spinal regions. The treatment of choice is achieving gross total resection, but given the eloquency of the lesions, achieving decompression via subtotal resection can also be associated with improved outcomes. To date, no global postoperative surveillance protocol exists, considering the low recurrence rate and relevant cost-benefit ratios.

Laser-Induced Chorioretinal Anastomosis in Neurofibromatosis Type 1.

This case report describes a laser-induced chorioretinal anastomosis in a 38-year-old woman with neurofibromatosis type 1.

[Small intestinal hemorrhage in a patient with Neurofibromatosis type 1]. / Hemorragia de intestino delgado en un paciente con Neurofibromatosis tipo 1.

We present the case of a 32-year-old male patient with a history of Neurofibromatosis type 1, who presented with active small bowel bleeding, initially diagnosed by observing bleeding in ileoscopy, presenting with hemodynamic instability, abdominal angiotomography was performed, identifying a mass with contrast enhancement and active bleeding at the middle jejunum level, for which an angiography with arterial embolization of the branch that supplies said area is performed. With the patient stable, a double-balloon antegrade enteroscopy was performed, observing a subepithelial, ulcerated lesion, endoscopic tattooing was performed and finally surgery was sent for resection by laparoscopy. The pathology study was compatible with a jejunal gastrointestinal stromal tumor (GIST).

Other Nerve Sheath Tumors of Brain and Spinal Cord.

The three main types of nerve sheath tumors are schwannomas, neurofibromas and perineuriomas. Multiple neurofibromas throughout the body are the hallmark of Neurofibromatosis type 1 (NF1). Spinal nerve sheath tumors are classified in the group of intradural extramedullary spinal cord tumors, in which they are the most common type (25-30%). Their incidence is 3-4 per 1 million people. Spinal schwannomas are encountered sporadically or in the context of Neurofibromatosis type 2, while neurofibromas are typical for patients with Neurofibromatosis type 1. Neurofibromas are composed predominantly of Schwann cells and fibroblasts, alongside which are also found axons, perineurial cells, mast cells and extracellular matrix. Most of the neurofibromas are asymptomatic. Any increase in the size of a neurofibroma or the presence of pain is an indicator of a possible malignant degeneration. Neurofibromas are treated surgically. Neurofibromas involve the whole nerve and cause its fusiform enlargement which makes it impossible to preserve the nerve's functions if complete tumor removal is performed. Hence, such tumors are initially observed. In case of progressive growth, the options are either resection of the tumor and immediate reconstruction with a peripheral nerve graft (e.g., nerve suralis interposition graft) or subtotal removal and follow-up. Malignant peripheral nerve sheath tumors (MPNST) are very rare tumors with incidence of around 1 per 1,000,000 people. MPNST account for 3-10% of all soft-tissue sarcomas. The most common initial symptom of MPNST is a painless mass. Any rapid increase in a subcutaneous mass or rapid onset of symptoms should raise the suspicion of a malignant tumor. In patients with diagnosed NF1, the recent rapid increase in a known lesion should raise the suspicion of malignant degeneration of the lesion and opt for active treatment. In the case of MPNST a wide surgical excision is advocated. The resectability depends greatly on the location of the tumors and varies from around 20% in paraspinal MPNST and reaches 95% in MPNST localized in the extremities. MPNST are a rare disease and should be managed by a multidisciplinary team of neurosurgeons, radiologists and oncologists.

A chance to cut is a chance to cure: complete resection of an atypical neurofibroma prevents further progression to malignancy.

Plexiform neurofibromas are the hallmark of neurofibromatosis type 1 (NF1) and significantly contribute to the overall burden of disease. While surgical excision has long been the only available therapy, the MEK inhibitor (MEKi) selumetinib has been approved as a non-surgical treatment option for these tumors in 2020 (USA) and 2021 (Europe), respectively. However, selumetinib will result in tumor shrinkage only after several months of therapy and might not prevent malignant transformation of a plexiform neurofibroma that occurs with a frequency of 10-15%. Here, we demonstrate that surgical excision might be the therapy of choice in some plexiform neurofibromas despite the availability of MEKi therapy.

Risk factors for intraoperative hemorrhage of Type I neurofibromatosis.

INTRODUCTION: Neurofibromatosis (NF) is an inherited disease and a benign tumor originating from nerve sheath cells. Neurofibromatosis type I (NF1) is the most common type, and most cases are characterized by neurofibromas. Neurofibromas in NF1 are mainly treated by surgery. Our study explores the risk factors for intraoperative hemorrhage in Type I neurofibromatosis patients who underwent neurofibroma resection. METHODS: A cross-sectional comparison of the patients who had undergone resection of neurofibroma for NF1. Data regarding patient characteristics and data about operative outcomes were recorded. The definition of intraoperative hemorrhage group was the intraoperative blood loss greater than 200 ml. RESULTS: Of 94 eligible patients, 44 patients were in the hemorrhage group and 50 patients were in the non-hemorrhage group. Multiple logistic regression analysis demonstrated that the area of excision, classification, surgical site, primary surgical, and organ deformation were significant independent predictors of hemorrhage. CONCLUSION: Early treatment can reduce the tumor cross-sectional area, avoid organ deformation, and reduce intraoperative blood loss. For plexiform neurofibroma or neurofibroma of the head and face, the amount of blood loss should be predicted correctly, and preoperative evaluation and blood preparation should be paid more attention to.

Giant Perineal Plexiform Neurofibroma in an 8-Year-Old African Male.

The perineal presentation of plexiform neurofibroma is exceptional, with only two cases reported to date.We present an 8-year-old African male with a large perineal tumor of years of evolution. He had no associated symptoms. Café au lait stains were observed on examination, without other findings of relevance. The patient had no preoperative radiological studies. Partial excision of the lesion was performed. Histopathological study of the specimen revealed a plexiform neurofibroma.The lack of diagnostic suspicion due to the atypical nature of the location, the anatomical complexity of surgical resection and the potential urological and rectal involvement make this lesion a diagnostic-therapeutic challenge. Among the differential diagnoses, schwannoma, congenital lipoma, hamartoma and lipoblastoma should be considered.

Rapidly expanding giant neurofibroma of the back with intratumoral hematoma: a case report and literature review.

Neurofibromatosis type I is a common genetic disease that can lead to disfigurement, neurological and functional disorders. However, it is rare to meet the case which a huge mass is formed rapidly after neurofibroma ruptures. This case report describes a rare case of a 52-year-old female with a rapidly expanding mass on her back and mild anemia as the main symptoms. Physical examination showed a huge mass on the back and a surface ulceration with the diameter of 6 cm. Imaging examination revealed the abundant blood supply to the lesion. We performed preoperative arterial embolization, and surgical resection on the fifth day after embolization. After operation, proper blood transfusion and vacuum sealing drainage (VSD) were given. Through 9-months follow-up study, the incision of the patient recovered well and there was no sign of tumor recurrence. Therefore, this case report provides clinicians with valuable experience in the treatment for rapidly expanding neurofibroma.

Outcomes and Safety of Traditional Growing Rod Technique in the Treatment of Early-onset Dystrophic Scoliosis Secondary to Type 1 Neurofibromatosis With Intraspinal Rib Head Dislocation in Children.

PURPOSE: The purpose of this study was to investigate the outcomes and safety of traditional growing rod (TGR) in the treatment of early-onset dystrophic scoliosis secondary to type 1 neurofibromatosis (NF1-EOS) with intraspinal rib head dislocation (IRH) in children. METHODS: From September 2006 to June 2020, 21 patients with NF1-EOS were treated with TGR. The patients comprised 13 boys and 8 girls with a mean age of 7.1±1.5 years. Two patients had IRH-induced nerve injury [American Spinal Injury Association (ASIA) grade D]. No neurological symptoms were found in the other patients. The intraspinal rib proportion, apical vertebral rotation, apical vertebral translation, coronal main thoracic curve, trunk shift, thoracic kyphosis, lumbar lordosis, sagittal balance, and T1-S1 height were measured before and after TGR implantation and at the last follow-up. Complications were also evaluated. RESULTS: The mean follow-up time was 3.4±2.0 years. An average of 3.1 times (range: 1 to 8 times) lengthening procedures were performed in each patient. The intraspinal rib proportion was significantly lower postoperatively than preoperatively (22±11% vs. 33±18%, respectively; P <0.001), and no significant correction loss was found at the last follow-up (24±12%, P= 0.364). Compared with the measurements before TGR implantation, the major coronal curve and T1-S1 height after TGR implantation and at the last follow-up were significantly different ( P <0.05). Significant correction of apical vertebral translation, thoracic kyphosis, lumbar lordosis, and sagittal balance were noted after TGR implantation, and no significant correction loss was found at the last follow-up ( P >0.05). Ten complications occurred in 7 patients. Two patients with nerve injury recovered after the operation. No neurological complications were found during the follow-up. CONCLUSIONS: TGR is a safe and effective therapy for NF1-EOS with IRH where there was no direct compression of the spinal cord, which was confirmed by preoperative magnetic resonance imaging. Through this procedure, IRH could be partly removed from the spinal canal. LEVEL OF EVIDENCE: Level III.

A Novel Hybrid Technique in the Treatment of Dystrophic Scoliosis Secondary to Neurofibromatosis Type 1 Lacking Pedicles in the Apical Area.

STUDY DESIGN: A retrospective observational study. OBJECTIVE: To introduce a novel hybrid technique using segmentation correction (SC) and to compare it with traditional correction (TC) in treating dystrophic scoliosis secondary to neurofibromatosis type 1 (NF1-S) lacking pedicles in the apical area. METHODS: We reviewed the NF1-S cases lacking pedicles diagnosed in our hospital between January 2015 and December 2019. Patients were divided into the SC and TC groups and were followed up for at least 2 years. The degree of deformities, correction rate, and vertebral rotatory subluxation (RS) were assessed before the operation, post-traction, post operation, and during follow-up visits. RESULTS: A total of 27 patients were included in the SC group and 21 in the TC group. There was no significant difference in the 2 groups before the surgery regarding age, height, weight, degree of deformities, and spinal flexibility. The correction rate of patients in the SC group was higher (57.7% ± 17.3% vs. 40.9% ± 19.0%, P = 0.002) than in the TC group. During the 2-year follow-up, the loss of Cobb angles of the SC group in both coronal and sagittal planes were lower than those of the TC group (coronal plane, 1.2° ± 1.1° vs. 2.0° ± 1.4°, P = 0.039; sagittal plane, 0.9° ± 0.5° vs. 1.7° ± 1.0°, P = 0.002). CONCLUSIONS: The SC technique showed better deformity correction than TC, suggesting that SC may be an alternative method for treating NF1-S patients lacking pedicles in the apical area.

Modified facelift in severe plexiform neurofibromatosis associated with venous vascular malformation: Case report.

Neurofibromatosis is an autosomal dominant disorder characterized by tumors of the nervous system and skin. Plexiform neurofibromas are common complications of neurofibromatosis type 1 and can cause large facial deformities. Vascular anomalies are in turn a rare manifestation of neurofibromatosis. We present the case of a 48-year-old female patient with right hemifacial neurofibromatosis associated with venous vascular malformation, previously treated surgically and then with sclerosing agents, determining severe residual facial deformity. Her surgical approach using a modified facelift technique associated with partial tumor debulking and lipofilling seems to be a valid technical alternative for these highly complex cases that require a customized approach after exhaustive preoperative evaluation.

[A Case of Small Intestinal GIST Associated with Neurofibromatosis Type 1].

A 41-year-old male, with a history of neurofibromatosis type 1(NF1)was referred for further evaluation of positive fecal occult blood test. Abdominal contrast-enhanced CT incidentally showed a mass lesion with early darkening in the small intestine. It was suspected to be a small intestinal arteriovenous malformation, and surgery was performed. The tumor in the small intestine was resected under laparoscopic assistance. The histopathological diagnosis was gastrointestinal stromal tumors associated with NF1, which are usually located in the small intestine and relatively favorable prognosis.

Somatostatinoma of the Ampulla of Vater: A Systematic Review.

BACKGROUND AND AIMS: Somatostatinoma of the ampulla of Vater (SAV) is a rare neuroendocrine tumor that usually appears with atypical clinical manifestations and is associated with Von Recklinghausen's disease. The aims of this study were to systematically review the literature regarding SAV and to highlight the clinicopathological characteristics and optimal therapeutic management of this rare entity. METHODS: A systematic search of the literature in PubMed/Medline and Scopus databases was performed by two independent investigators, including all case reports and case series concerning SAVs from 1980 until September 2021. RESULTS: In total, 37 articles were retrieved, including 43 patients, with a male to female ratio of 1.8:1 and a mean age of 46.8 ± 11.3 years (mean, SD). For 23 out of 43 patients (53.5%), Von Recklinghausen's disease was proved. The main clinical manifestations were abdominal pain (41.9%), jaundice (27.9%), weight loss (20.9%) and bowel disorders (20.9%). Typical histological findings included psammoma bodies, nests or clusters of epithelial cells with eosinophilic cytoplasm, while somatostatin staining was positive in 35 patients (81.4%), chromogranin-A in 21 patients (48.8%) and synaptophysin in 18 patients (41.9%). Surgery was the initial therapeutic approach in 34 patients (79.1%), whereas Whipple's procedure was the preferred surgical approach in 23 patients (53.4%). The longest survival among included patients was 13 years and only two postoperative deaths (4.7%) were reported. CONCLUSIONS: Somatostatinomas of the ampulla of Vater are rare malignancies that require increased physicians' suspicion and accurate surgical approach in order to achieve optimal therapeutic results.

Sphenoid Wing Dysplasia: Report Of 3 Cases.

Sphenoidal Dysplasia is the absence of complete or a part of sphenoid bone, most commonly the greater wing of sphenoid. It can occur as an isolated deformity or in Neurofibromatosis-1 (NF1). Features of NF1 include café au lait spots, inguinal or axillary freckling, neurofibromas, optic gliomas, scoliosis and tibial deformity. Our study is retrospective case series of 3 cases of Sphenoid wing dysplasia. There was 1 case of isolated bone defect, 1 case of NF-1 and 1 case of operated Craniofacial Fibrous Dysplasia involving the sphenoid wing. There were 2 primary operated cases while 1 was operated secondarily. There was resolution of pulsatile exophthalmos in patient with sphenoid and temporal bone defect. Patient with facial deformity NF1 was debulked to the satisfaction of the patient, the patient however declined surgery to correct the sphenoid bone deformity. The 3rd patient was a re-do surgery patient in which the previous implant material was removed and the CSF rhinorrhoea, the patient did not consent to the correction of vertical orbital dystopia. Sphenoid wing dysplasia is a complex deformity requiring multi speciality care and treatment planning. With meticulous planning and surgery, good results can be achieved as shown in our case series.

Reconstruction Using a Fibular Autograft for Lumbosacral Spinal Deformity in Neurofibromatosis Type 1: A Report of 2 Cases.

CASES: We present 2 cases (19- and 40-year-old women) of lumbosacral spinal deformity with sacroiliac joint destruction. Reconstruction surgery using a fibular strut autograft was performed in both patients, and spinal reconstruction and fusion were successfully maintained without bone resorption for at least 7 years. CONCLUSION: This is the first report of reconstructive surgery using a fibular strut bone graft for lumbosacral deformity with destruction of the sacroiliac joint in patients with neurofibromatosis type 1 (NF-1). These findings suggest that reconstruction with a fibular strut autograft is useful for lumbosacral spinal deformity that includes destruction of the sacroiliac joints in NF-1.

Traumatic Brain Injury, Bulging Eyeball, and Skin Lumps.

A 43-year-old man was admitted to the emergency department for motor vehicle collision. First clinical impression was traumatic injury of the right eye with bare light perception. A physical examination revealed multiple nodular skin lesions on the head and neck. Head magnetic resonance imaging and computed tomography scans showed intracerebral hemorrhage, trans-orbital brain herniation, and right sphenoid wing dysplasia. A diagnosis of neurofibromatosis type 1 was made. Sphenoid wing dysplasia (also known as bare orbit sign) in neurofibromatosis type 1 was a contributing factor to the trans-orbital herniation, but also helped reduce intracranial pressure after traumatic brain injury in this rare case. Mannitol was administered, and no neurosurgical intervention was needed for traumatic brain injury. Canthorrhaphy of the right eye was performed to preserve patient's right eyeball. At 1-month follow-up, patient's right eyeball was preserved, and vision improved as well.

Sectional Correction Technique in Dystrophic Scoliosis Secondary to Neurofibromatosis Type 1: A Comparison with Traditional 2-Rod Correction Technique.

OBJECTIVE: The purpose of this study was to compare the traditional 2-rod correction technique with the sectional correction technique in terms of radiographic results and clinical outcomes for patients with dystrophic scoliosis caused by neurofibromatosis type 1 (NF1). METHODS: From May 2015 to April 2018, 53 patients with dystrophic scoliosis caused by NF1 underwent 1-stage posterior corrective surgery. Patients were separated into 2 groups based on technique: the sectional correction technique (SC group) and the traditional 2-rod technique (TT group). Before surgery and at the final follow-up, the demographic information, radiographic parameters, and clinical outcomes were compared between the groups using independent-sample t tests. RESULTS: The SC group consisted of 24 patients, while the TT group consisted of 29 patients. Patients in the SC group showed a higher coronal balance distance after the operation (8.3 ± 8.2 mm vs. 16.2 ± 8.8 mm, P = 0.002) and at the final follow-up (9.5 ± 9.3 mm vs. 19.3 ± 10.1 mm, P < 0.0001). At the last follow-up, the loss of correction in the SC group was 2.2 ± 0.9 and 2.1 ± 0.7 in the coronal and sagittal planes, respectively, and these values were significantly lower than those in the TT group (5.3 ± 1.6 in the coronal plane and 4.5 ± 1.9 in the sagittal plane, both P < 0.05). The SC group had better improvement based on appearance and satisfaction score at the final follow-up. CONCLUSIONS: The sectional correction technique using a concave domino connector can restore coronal imbalance and reduce the risk of implant failure.

Reminder for the clinician: abdominal manifestations of type 1 neurofibromatosis are not so uncommon.

We describe the case of a woman in her 50s with abdominal pelvic masses suspected to be an ovarian lesion with metastases. At laparoscopy, it appeared as a possible abdominal location of neurofibromatosis type 1 (NF-1). A 50 cm of small bowel was resected to remove multiple nodular lesions. On histopathology, small bowel lesions (n=14) were all classified as GISTs. Clinicians should recognise and consider gastrointestinal manifestations of NF-1 in the diagnostic flow chart. Surgical treatment may resolve symptomatic cases and prevent local infiltration or malignant degeneration of abdominal neoplasms occurring in patients with NF-1.