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Thoracic meningocele is a rare medical condition that is usually linked to neurofibromatosis type I. 1 Respiratory and neurologic symptoms characterize it. 2 Although there have been some improvements in surgical techniques, the condition has a high recurrence rate, with most cases recurring within a year of surgery. 3 A 56-year-old woman was observed due to respiratory and pyramidal signs. A chest computed tomography scan and magnetic resonance imaging revealed a thoracic meningocele, occupying the lower sectors of the right hemithorax, communicating with the cerebrospinal fluid space at the T10-T11 level. Multidisciplinary surgery was performed. After selectively intubating both bronchi, the patient was placed in prone position and a posterior median thoracic spine approach was performed. After T10-T11 laminectomy, 3 dural longitudinal incisions were performed. The first incision was placed in the middle to deflate the collection, the second was made on the right side to obtain a complete view of the meningocele, and the third was made on the right lateral side to exclude the meningocele. The lateral dura at the last incision was sutured to the dura propria lining the vertebral body of T11 and T10. The paramedian and median incisions were closed, with Tachosil placed above and below the sutures. Subsequently, the patient was placed in a supine position, the right lung was deflated, and a triportal thoracoscopic approach was performed to dissect and remove the lesion. 4 The breach was closed using Tachosil (Baxter Healthcare Corp, Deerfield, Illinois, USA) and fibrin glue. An early 1-month computed tomography and magnetic resonance imaging confirmed the surgery was successful. [ABSTRACT FROM AUTHOR]

The treatment of symptomatic pseudarthrosis via posterior-only approaches in the setting of neurofibromatosis 1 (NF1) is challenging due to dural ectasias, resulting in erosion of the posterior elements. The purpose of this report is to illustrate a minimally invasive method for performing anterior thoracic fusion for pseudarthrosis in a patient with NF1-associated scoliosis and dysplastic posterior elements. To the best of our knowledge, this is the first documented case of using video-assisted thoracoscopic lateral interbody fusion to treat pseudarthrosis for NF1-associated spinal deformity. The patient underwent video-assisted thoracoscopic anterior spinal fusion via a direct lateral interbody approach with interbody cage placement at T10-T11 and T11-T12, followed by revision of his posterior spinal fusion and instrumentation. The patient had an uneventful postoperative course. At 6 months of follow-up, the patient had complete resolution of his preoperative symptoms and had returned to full-time work with no complaints. At 3 years postoperatively, the patient reported being satisfied with the operation and had continued to work full-time without restrictions. To the best of our knowledge, this is the first report of pseudarthrosis in the setting of NF1-associated scoliosis treated via minimally invasive anterior thoracic fusion facilitated by video-assisted thoracoscopic surgery. This is a powerful technique that allows for safe access for anterior thoracic fusion in the setting of dysplastic posterior anatomy and poor posterior bone stock. [ABSTRACT FROM AUTHOR]

Sporadic spinal hamartomas in adults are extremely rare tumor-like lesions, without defined guidelines of treatment. The aim of this study is to investigate the peculiar features of this pathologic entity to support a more accurate diagnosis and management. A comprehensive and detailed literature review of sporadic spinal hamartomas in adults, including a personal case, was performed. Demographic (sex and age), clinical (presenting symptoms), radiologic and pathologic (size, localization, dural and spinal cord relationship of lesion) features, as well as treatment (time to surgery, extent of resection, perioperative and postoperative complications) and outcome (clinical) data were analyzed. Seven studies, including 7 patients, were eligible for the review. A personal case was also added. Sporadic adult spinal hamartomas equally affect males and females, in a range of age from 18 to 75 years; sensory radicular deficits were detected in all patients at clinical onset; thoracic segment (4/8) of the spine and intradural compartment (6/8) were most involved. All patients underwent surgery and just one experimented postoperative complication; gross total resection was achieved in only 3 patients, mainly in an extradural localization; clinical improvement at last follow-up was reported in all but 1 patient. Spinal hamartomas in adults may sometimes account for progressive worsening of neurologic symptoms and lead to potentially irreversible neurologic deficit; therefore, prompt and adequate diagnosis and treatment are mandatory. Surgical resection represents the only curative treatment and is indicated for symptomatic lesions to achieve neurologic symptoms restoration or arrest/prevent their progressive deterioration. [ABSTRACT FROM AUTHOR]

The use of radiotherapy (RT) for the treatment of vestibulocochlear schwannomas is standard in patients with type 2 neurofibromatosis (NF2). In the general population, fractionated RT (FRT) can achieve good results compared to single-dose radiosurgery (SRS). We aimed to assess whether this is true for NF2 patients as well. This retrospective cohort study included 34 patients and 54 lesions treated between 2010 and 2023 in a single university hospital. Thirty-four patient charts were assessed. The median follow-up was 62.6 months (range, 7.1–135.8 months). Lesion size (median larger diameter, 2.5 cm) was correlated with the use of FRT (P > 0.001). Younger age also was correlated with FRT (P = 0.006). Median overall survival and progression-free survival (PFS) were not reached. The overall control rate was 76.5%, and the mean PFS was 49.8 months, compared with. 90.5% and 57.2 months, respectively, for SRS and 66.7% and 44.9 months, respectively, for FRT. There were no differences between the 2 groups in hearing loss, tinnitus, and facial palsy. In the NF2 population, FRT may yield worse control rates than SRS. Whenever possible, it is preferable to not fractionate treatment for these patients. Nevertheless, the FRT results were still good. More and larger prospective trials are warranted. [ABSTRACT FROM AUTHOR]

High cervical intradural extramedullary tumors are uncommon. Their relationship to surrounding neural structures and vertebral arteries makes surgical excision challenging. No previous studies have compared high cervical to subaxial cervical intradural extramedullary spinal tumors to elucidate their unique characteristics and surgical outcomes. We performed a retrospective study in which patients who underwent excision of a cervical intradural extramedullary tumor were divided into a high cervical group and a subaxial cervical group. Variables included sex, age, Charlson Comorbidity Index, volume, laterality, preoperative weakness, use of neuromonitoring and drains, instrumented fusion, complications, length of stay, histology, discharge location, recurrence, and duration of follow-up. Variables were compared between the 2 groups. Limb power and Nurick classification were charted preoperatively, at discharge, and at 6 months to plot their recovery trajectory. Eighty-four patients with a total of 90 tumors were enrolled, including 40 patients in the high cervical group and 44 patients in the subaxial spine group. More patients with neurofibromas (P = 0.011) and bilateral tumors (P = 0.044) were in the high cervical group. A greater prevalence of neurofibromatosis type 1 was significant for bilateral high cervical tumors (P = 0.033). More patients in the subaxial group had instrumented fusion (P = 0.045). More patients in the high cervical group had improvement in limb power (P = 0.025) and Nurick classification (P = 0.0001) postoperatively before discharge. By 6 months, both groups had similar recovery. No mortality was attributable to surgery in either group. High cervical intradural extramedullary spine tumors have more bilateral tumors associated with neurofibromatosis type 1. Despite the challenging anatomy, surgical resection is safe with good outcomes in this group. [ABSTRACT FROM AUTHOR]

The literature on neurofibromatosis (NF) has never been systematically assessed using bibliometric analytic methodologies. We quantitatively analyzed the major trends and scientific output regarding NF, highlighting potential avenues for research. An Elsevier's Scopus database search was performed for all indexed studies related to NF from 1898 to 2021. Validated bibliometric parameters were analyzed using productivity, citation, and keyword analysis, including text mining, content analysis, and collaboration network mapping from inception to date on R 4.1.2. Our search yielded 15,024 documents. Annual scientific production has grown at a compounded rate of 5.86%, with the largest occurring in 2021 (n = 626). Journals with the most publications on NF include the Journal of Medical Genetics (n = 117) and Neurology (n = 113). The topmost cited author was Gutmann DH (n = 295). The United States had the most international collaboration (n = 435; multiple country publications). Identification of citation classics revealed a shift in recent decades towards understanding genetic and molecular pathways of NF tumorigenesis. Macro-level and micro-level text mining revealed the top 20 genetic and molecular pathways, and syndromes, associated with NF. Our study exemplifies a quantitative method for understanding the historical and current state of academic efforts regarding NF. There has been a shift of treatment strategies towards targeting specific pathways involved in tumorigenesis. We highlight the top 20 genetic and molecular pathways in the literature as well as the top 20 associated syndromes. This data is encouraging as increased research in molecular targeted therapies aimed at NF pathogenesis may allow advances in disease control. [ABSTRACT FROM AUTHOR]

Falcine meningioma is usually approached ipsilaterally, and the technique for tumor removal has traditionally been performed under microscopy. We report a surgical procedure for large falcine meningioma by an endoscopic contralateral interhemispheric transfalcine keyhole approach. The study period was from September 2019 to March 2021. Study participants were patients with World Health Organization grade I meningioma showing falx attachment, excluding neurofibromatosis, who underwent initial surgery at our institution. The surgical procedure begins with a small contralateral craniotomy of about 3 cm, followed by insertion of an endoscope. The tumor attachment to the falx is excised, exposing the tumor. Internal decompression is performed, and the lesion is dissected from the surrounding brain before removal through the falx. An endoscopic contralateral interhemispheric transfalcine keyhole approach was used to resect 4 cases of large falcine meningioma. The mean operation time was 265 minutes (range: 216–294 minutes), achieving Simpson grade I removal in all cases. No evidence of cerebral infarction, cerebral edema, or new neurological complaints related to impaired venous return was seen using this surgical method. In the case of falcine meningioma, the endoscopic keyhole contralateral technique allows detachment of the tumor from the falx and safe manipulation in a minor field of view. In addition, because the craniotomy is smaller and the operation time is shorter, this procedure offers a less-invasive approach for the patient. This technique is thus, in our opinion, quite advantageous. [ABSTRACT FROM AUTHOR]

Objective: The link between tethered cord syndrome (TCS) and neurofibromatosis type 1 (NF1) remains unclear. To date, only 2 studies have indicated a high occurrence of TCS in the pediatric NF1 patient population. Our study aims to ascertain the incidence of TCS among Chinese pediatric patients with NF1., Methods: A single-institution, 8-year retrospective analysis at a tertiary-level children's hospital was conducted for patients with NF1 who underwent surgery for TCS. The clinical features, imaging characteristics, genetic testing outcomes, and histopathological findings of pediatric NF1 patients with TCS were analyzed., Results: During the study period, a total of 115 pediatric patients were diagnosed with NF1. Among these 115 NF1 patients, 11 individuals, accounting for 9.6% of the sample, were confirmed to have TCS. This rate of occurrence is significantly higher than the incidence rate of TCS in the general population, which stands at 0.17%. All 11 of the pediatric NF1 patients underwent surgery for TCS. Out of the 11 patients who were advised to have tethered cord release surgery, 4 (36.4%) were girls, and the average age of these 11 patients was 8.6 years, with ages ranging from 2 to 17 years. The conus medullaris position of the 11 pediatric NF1 patients ranged from L1 to L2, and 10 of them (91%) had a filum terminale lipoma, characterized by high signal intensity on T1-weighted magnetic resonance images. Another patient was diagnosed with occult TCS. All 11 pediatric NF1 patients exhibited symptoms associated with TCS, such as neuromotor dysfunction, abnormalities in urination, defecation, skeletal system abnormalities, or pain. Eight of the 11 pediatric NF1 patients had undergone genetic testing, which is a crucial part of the diagnostic process for NF1. The histopathological examination of the 11 pediatric NF1 patients who underwent surgery revealed that 10 patients had fatty infiltration of the filum terminale, while the remaining patient exhibited fibrosis of the filum terminale., Conclusions: In the group of pediatric patients with NF1, the incidence of TCS, presenting to the pediatric neurosurgery clinic for any reason, is significantly higher than that of the general population. However, the pathophysiological relationship between NF1 and TCS is still not clear. It is essential to provide counseling to NF1 patients and their families about the symptoms of TCS to make sure they are aware and can seek the necessary care when needed. This underscores the importance of not only diagnosing NF1 but also staying alert for related conditions like TCS, which may have a higher occurrence in this demographic., (Copyright © 2024 Elsevier Inc. All rights reserved.)

A 16-year-old male presented with solitary occipital plexiform neurofibroma, which had grown slowly over several years to reach giant size, thereby mimicking a "double head." There were no features of neurofibromatosis type 1. Total excision of the neurofibroma was done by infiltrating adrenaline circumferentially around the tumor before scalp incision. The feeding arteries were identified in the dense connective tissue above the aponeurosis and ligated or cauterized. Dissection was then carried out in the loose areolar tissue preserving the periosteal layer. There was no evidence of malignant transformation on histopathology, and 5-year follow-up showed no tumor recurrence. [ABSTRACT FROM AUTHOR]

Cognitive impairment is a common neurologic complication of neurofibromatosis type 1 (NF-1) in childhood. A great number of learning disabilities appear in 30%−65% of children with NF-1. The aim of the study is to compare intelligence quotient (IQ) scores between children with NF-1 and comparable control groups. A literature review was conducted using the following databases: Cochrane, PubMed, Wiley, Microsoft Academic, and Google Scholar. We identified 180 papers. The pertinence of any study to the inclusion criteria was determined by assessing the title, key words, and abstracts. Data were extracted using multiple variables that were formulated incongruent with the study aim and then further analyzed. Eleven articles met our criteria, with the highest level of evidence of 3c. A total of 483 NF1 and 443 control participants were included in this meta-analysis. The average and standard deviation of the age was 9.15 ± 3.15 years with an age range of 3.3−18 including 488 male and 438 female. The pooled estimate of the mean difference in all 3 parameters used full-scale IQ, verbal IQ, and performance IQ. Statistically, there was a significantly lower IQ in the NF-1 group compared with the control group with a 95% CI and (P < 0.00001). The current meta-analysis illustrated a significant intellectual deficit in children with NF-1 compared with their typically developed peers who were matched by age. Performance IQ was significantly impaired compared with verbal IQ in NF-1 children. The current findings may guide experts to tailor individualized educational programs for children with NF-1. [ABSTRACT FROM AUTHOR]

Primary central nervous system sarcomas are rare primitive mesenchymal non-meningothelial tumors. Malignant peripheral nerve sheath tumor accounts for 5% of sarcomas, with an incidence of approximately 0.001% and a recognized association with neurofibromatosis type 1. Its intracranial subtype, the so-called malignant intracerebral nerve sheath tumor (MINST), is even more infrequent. Current knowledge about its clinical presentation and best therapeutic management is poor because of the limited number of cases reported in literature. Commonly, intratumoral hemorrhage occurs at the time of diagnosis and, notably, most patients had intracranial hemorrhage prior to definitive diagnosis. We report a case of MINST in a young boy affected by neurofibromatosis type 1 who presented a spontaneous intracranial hemorrhage, successfully treated with surgery and postoperative adjuvant therapy. The tumor relapsed 1 year after and was successfully retreated with a second surgery. Malignant intracerebral nerve sheath tumors are rare sarcomas that can be associated with intratumoral hemorrhage at the time of presentation, mostly in patients with neurofibromatosis type 1. Surgery promptly performed, associated with adjuvant therapy, can result in an encouraging survival rate. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic condition in which spinal deformities are commonly involved. However, atlantoaxial dislocation in NF-1 is extremely rare. A review of the English literature has identified only 10 cases in 8 reports. We report a rare case involving NF-1 associated with severe atlantoaxial dislocation. A 22-year-old woman with NF-1 presented with progressive numbness in her left upper and lower extremities and gait difficulty for 2 months. She was treated with skull traction and partial reduction was achieved. Initial surgical strategy was posterior fusion using a screw-rod-wire construct, but significant bleeding was encountered during the surgery. To shorten the procedure time, a single sublaminar wire of the atlas was tied to the spinous process of the axis to accomplish the reduction and fixation. C1-C2 fusion was performed using iliac crest autograft. The patient had significant improvement of neurologic deficit after surgery. Due to relatively poor fixation provided by the wire, she was requested to rest in bed for the first 3 months and to wear a cervical orthosis for the next 3 months. Solid bony fusion was confirmed by radiologic examination at 18-month follow-up. Atlantoaxial dislocation is a rare complication in NF-1 patients. Surgical reduction combined with fusion is essential for a good outcome. Spine surgeons should also be knowledgeable about the possibility of significant hemorrhage before surgery. [ABSTRACT FROM AUTHOR]

Grade V thoracic spondylolisthesis secondary to neurofibromatosis type 1 (NF-1), especially combined with vertebral fusion, is rare. We reported a case of a 26-year-old female diagnosed with grade V T2spondylolisthesis and T2-T5 autofusion secondary to NF-1, which caused severe kyphotic deformity and neurologic deficits, and she was treated with posterior decompression, internal fixation, and fusion. The right-handed patient admitted to the clinic due to weakness of her legs. An eye examination documented a sign of Lisch nodules in the iris. Café-au-lait macules, dermal neurofibroma of multiple forms, and rubbery bumps of varying sizes could be observed on her skin. Paresis with muscle strength of 2/5 in both lower extremities with increased muscle tone and decreased muscle mass could be observed. Radiographic results indicated grade V thoracic spondylolisthesis with vertebral fusion from T2-T5 level. To alleviate neurologic dysfunction, posterior decompression, internal fixation, and fusion were performed. She reported marked improvement in lower limb motor and sensory functions during the follow-up, and her muscle strength recovered to 5/5. Grade V thoracic spondylolisthesis combined with vertebral fusion on T2-T5 level in NF-1 is rare. Early surgical intervention of posterior spinal decompression with internal fixation and fusion yielded satisfactory clinical outcomes. [ABSTRACT FROM AUTHOR]

"Kissing" neurofibromas (KNs) are a unique group of spinal tumors found in neurofibromatosis type 1 (NF1) patients. These are bilateral neurofibromas that approximate each other at the same level, with significant impingement compression of the cord or thecal sac. The best management options and surgical strategies for NF1 patients with KN have not been standardized. We conducted a retrospective study evaluating adult NF1 patients with KN. All patients are followed routinely at the Gilbert Israeli NF Center. Patients' files were reviewed for natural history, imaging features, surgical technique, and surgical outcome. Twelve patients with at least 1 pair of KN were identified (6 females). Median age at spinal presentation was 24 (range 17–48). KNSs were located at the cervical (n = 8) and lumbar (n = 8) region, with no thoracic involvement. Seven of the 12 patients were operated; all underwent surgery due to cervical compression with progressive myelopathy. Four patients remained asymptomatic during the follow-up period. Three patients underwent multiple operations. Operative outcome was favorable in 71% of patients, with marked overall motor improvement or stabilization of neurologic deterioration. Two patients who entered surgery with a low functional reserve deteriorated after surgery. In our series, KN caused progressive cord compression in 7 of the 8 patients with cervical tumors. No intervention was needed for lumbar tumors. Cervical tumors should be followed closely, with a low threshold for intervention. NF1 patients harboring KN should be followed both clinically and radiologically for life. [ABSTRACT FROM AUTHOR]

Cases of multiple intracranial tumors are common; however, cases of multiple intraspinal tumors are rare. Except for cases of neurofibromatosis, it is very rare for tumors of different pathological types to exist concurrently at the same spinal level. Only 9 cases have been reported to date, with meningioma found with schwannoma in 7 cases and with neurofibroma in 2 cases. We have reported another rare case in which neurofibroma and meningioma were identified within a single dumbbell-shaped tumor at the same cervical level without neurofibromatosis. The preoperative magnetic resonance imaging findings indicated a single extra- and intradural extramedullary dumbbell-shaped neurogenic tumor on the left ventral side of the cervical spine. Intraoperatively, we found that the mass consisted of 2 pathologically different tumors. The results of surgical resection were mostly satisfactory. To the best of our knowledge, the present case is the first reported case of intradural neurofibroma (not meningioma) and extradural meningioma growing mixed together at the same spinal level without neurofibromatosis. The precise mechanism underlying the formation of the tumor is unknown, and multidirectional differentiation of a common progenitor cell is one possibility. Intra- and extradural exploration and component biopsies are useful for treatment planning, especially when the magnetic resonance imaging is not sufficiently sensitive for the diagnosis of coexisting tumor types. [ABSTRACT FROM AUTHOR]

Spinal meningocele is the herniation of dura mater and cerebrospinal fluid through a spinal defect, be it congenital, iatrogenic, or traumatic. Intrathoracic meningoceles are rare and are most commonly associated with neurofibromatosis. When indicated, surgical management of symptomatic thoracic meningocele is aimed at decreasing the size of the meningocele, which can be accomplished by a variety of procedures. A 59-year-old woman with neurofibromatosis type 1 and a known thoracic meningocele was initially managed conservatively. However, she developed syringomyelia and subsequently became symptomatic from the syrinx. She was ultimately treated successfully with ventriculoperitoneal shunt. Shunting resulted in complete resolution of the syrinx, while the thoracic meningocele remained stable in size. Ventriculoperitoneal shunt can be used to successfully treat a symptomatic syrinx in a patient with an asymptomatic thoracic meningocele. Alterations in normal cerebrospinal fluid flow dynamics from the thoracic meningocele likely contributed to the development of syringomyelia in this patient. [ABSTRACT FROM AUTHOR]

Patients with neurofibromatosis type 2 develop bilateral vestibular schwannomas with progressive hearing loss. Auditory brainstem implants (ABIs) stimulate hearing in the cochlear nuclei and show promise in improving hearing. Here, we assess the impact of ABI on hearing over time by systematically reviewing the literature and re-analyzing available individual patient data. A multidatabase search identified 3 studies with individual patient data of longitudinal hearing outcomes after ABI insertion in adults. Data were collected on hearing outcomes of different sound complexities from sound to speech using an ABI ± lip reading ability plus demographic data. Because of heterogeneity each study was analyzed separately using random effects multilevel mixed linear modeling. Across all 3 studies (n = 111 total) there were significant improvements in hearing over time from ABI placement (P < 0.000 in all). Improvements in comprehension of sounds, words, sentences, and speech occurred over time with ABI use + lip reading but lip reading ability did not improve over time. All categories of hearing complexity had over 50% comprehension after over 1 year of ABI use and some subsets had over 75% or near 100% comprehension. Vowel comprehension was greater than consonant, and word comprehension was greater than sentence comprehension (P < 0.0001 in both). Age and sex did not predict outcomes. ABIs improve hearing beyond lip reading alone, which represents baseline patient function prior to treatment, and the benefits continue to improve with time. These findings may be used to guide patient counseling regarding ABI insertion, rehabilitation course after insertion, and future studies. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type I (NF1) will be associated with hydrocephalus in ≤13% of cases. Currently, very little data are available describing the actual etiologies and treatment options of NF1-associated hydrocephalus. We, therefore, have described our experience in treating NF1-associated hydrocephalus. We completed a retrospective data analysis of 1020 patients with NF1 treated at the Gilbert's Israeli International Neurofibromatosis Center during a period of 20 years. The patients presenting with, and treated for, related hydrocephalus were included. The clinical, radiological, and surgical data are presented. We included 22 patients (2.1% of the entire NF1 patient cohort), with 17 aged <19 years. Twenty patients had obstructive hydrocephalus. The most common etiologies included aqueductal or third ventricular obstruction. Of the 22 patients, 15 had underwent endoscopic procedures (14 third ventriculostomies) and 7 had undergone shunt procedures. The corresponding failure rates (including the need for additional cerebrospinal fluid procedures) were 60% and 71%. Hydrocephalus in the context of NF1 has been caused mostly by obstructive etiologies. A tailored treatment approach is recommended to address the specific etiology. Regardless of the treatment approach, a relatively high rate of failure has been described. [ABSTRACT FROM AUTHOR]

To evaluate the early and midterm outcomes of surgical correction for severe dystrophic cervical kyphosis in patients with neurofibromatosis type 1 (NF-1) and analyze the pathomechanics and the influence on surgical efficacy of related systemic skeletal dystrophy. Ten patients who underwent surgical correction for NF-1–related severe dystrophic cervical kyphosis were reviewed. Radiographic parameters, including local and global Cobb angle, sagittal vertical axis, and T-1 slope, were measured. The visual analog scale score, Japanese Orthopaedic Association score, Neck Disability Index, Patient Satisfaction Index, and complications were evaluated. The average follow-up was 50.6 months. The local and global Cobb angle improved from the preoperative average of 82.0° and 54.9° to an average of 35.6° and 29.8°, respectively, at the time of final follow-up. The C2-7 sagittal vertical axis averaged 5.8 mm before surgery and 8.9 mm at the final follow-up. The average T1 slope was –12.3° before surgery and –1.6° at the final follow-up. The visual analog scale score, Japanese Orthopaedic Association score, and Neck Disability Index improved significantly, and the overall satisfaction rate was 90.0%. One death and 4 instrumentation failures occurred, 3 patients showed progression of the kyphosis, and 2 fusion failures were observed. Surgical correction, specifically the combined anteroposterior procedure, is essential and effective for management of NF-1–related severe dystrophic cervical kyphosis. However, high incidences of instrumentation failure, kyphosis progression, and fusion failure were observed. NF-1–related continuous skeletal dystrophy caused by multiple metabolic factors remarkably affected the midterm outcomes. Early prevention and targeted pharmacotherapy may be necessary. [ABSTRACT FROM AUTHOR]

Moyamoya disease (MMD) is characterized by a progressive spontaneous occlusion of distal internal carotid arteries and its main branches. It is necessary to promptly diagnose and treat this condition, especially in children, because of the high risk of stroke and consequent severe disability. In this study, we examine the role of multiple burr-hole surgery (MBHS) in the treatment of pediatric patients with MMD and quasi-MMD and the role of perfusion magnetic resonance imaging (MRI) in the surgical indication and during follow-up. We reviewed preoperative, early postoperative, and late postoperative MRI perfusion and digital subtraction angiography images together with clinical and surgical outcomes in 10 children with MMD treated by MBHS. Fourteen MBHS procedures (6 unilateral, 2 bilateral, and 2 single-setting bilateral) were performed in 10 children. Clinical and radiologic follow-up for all patients ranges from 16 months to 7 years. No ischemic events (transient ischemic attacks or stroke) occurred during the follow-up period. Postoperative digital subtraction angiography showed good revascularization around the burr-hole sites in all patients. The functional efficacy of the surgery was confirmed by dynamic susceptibility contrast perfusion MRI studies in 8 patients. Our data underline the good rate of success of MBHS in pediatric MMD and quasi-MMD. This technique results in good collateral revascularization, improved cerebral perfusion and excellent short and long-term symptoms control, with low perioperative risk. Postoperative changes of perfusion parameters and ivy sign MRI finding seem to show a positive correlation and mainly occur in posterior middle cerebral artery territory. [ABSTRACT FROM AUTHOR]

The vast majority of cerebellopontine angle tumors are benign with a favorable prognosis. Metastatic tumors occurring in the cerebellopontine angle are extremely rare. Herein, we report a case of colon carcinoma metastasis to the bilateral internal auditory canals. A 59-year-old man presented with a 2-week history of binaural hearing loss. One year before admission, he was diagnosed with colon carcinoma and underwent surgical resection combined with chemotherapy. Physical examination showed complete hearing loss in bilateral ears and bilateral facial palsy. Magnetic resonance imaging of the brain revealed nodules in the bilateral internal auditory canals. Middle-ear computed tomography demonstrated soft-tissue masses extending into the bilateral internal auditory canals. A diagnosis of neurofibromatosis type II was suspected. A unilateral surgical resection of the cerebellopontine angle tumor was performed. Postoperatively, the hearing loss and facial palsy remained unchanged. Pathologic examination showed metastatic, poorly differentiated carcinoma. The patient was diagnosed with metastatic colon carcinoma in the bilateral internal auditory canals. The patient refused radiotherapy and chemotherapy. The tumor progressed rapidly, and the patient developed dysphagia and choking 1 month later. The patient died of respiratory and circulatory failure 2 months after the surgery. Clinicians should be aware of metastatic tumors in the internal auditory canals. Comprehensive clinicoradiologic evaluation should be highlighted. A history of malignancy and rapidly progressive hearing loss and facial palsy may suggest the diagnosis of metastasis to the internal auditory canal. The definitive diagnosis still depends on histopathologic examination. [ABSTRACT FROM AUTHOR]

Background A vertebral artery arteriovenous fistula is rare and usually due to trauma. Atraumatic cases are quite rare. We reported 2 cases and a review of other reported studies. Case Description A spontaneous vertebral–venous fistula is rare, and the 2 cases presented illustrate an underlying spontaneous etiology. The first patient presented with a spontaneous fistula, and the second case occurred in a patient with neurofibromatosis type 1. In both cases, the fistulas were diagnosed using computed tomography angiography and treated with occlusion via coil embolization. Conclusions Vascular changes are known in patients with neurofibromatosis. A proposed pathogenesis of fistula is that the fragility and defective nature of the arterial wall could be a predisposing factor or it might be congenital. Understanding the clinical symptoms, diagnosis, and effective management strategies are important for physicians treating patients with a vertebral artery arteriovenous fistula. Highlights • Vertebral–venous fistulas are rare, mostly traumatic in origin, with few spontaneous cases reported. • A definitive diagnosis with CTA is required for treatment planning. • Both of our patients presented with spontaneous manifestations of their vertebral arteriovenous fistula. • Neurofibromatosis type 1 causes vessel vulnerability owing to abnormalities of the connective tissue. • A delay in treatment will complicate cases by recruitment of additional feeders to the fistula. [ABSTRACT FROM AUTHOR]

Background The polymalformative syndromes and craniofacial anomalies association is a well-known phenomenon in patients with Crouzon, Pfeiffer, Apert, or Muenke disease. Recently, other less frequent pathologies, such as Alagille syndrome, have shown an association with alterations in the development of cranial sutures, resulting in serious cosmetic defects and neurologic disorders. Case Description We report an exceptional case of a 30-month-old girl, a nephroblastoma survivor diagnosed with Alagille syndrome, who was referred to our department with progressive anterior plagiocephaly and premature left coronal suture closure associated with a large compensating right bossing. Despite the patient's age, we offered aggressive surgical treatment performing a new forehead harvested from the skull vertex with orbital rim reconstruction. Conclusions Alagille syndrome is a complex multisystem pathology with a poor craniosynostosis association and only 3 cases have been described in the literature. [ABSTRACT FROM AUTHOR]

Background Although benign trigeminal schwannomas are uncommon, malignant peripheral nerve sheath tumors (MPNSTs) of the trigeminal nerve are extraordinarily rare. Case Description A 56-year-old female presented with a 2-month-long history of numbness of the right face and progressive weakness of the left limbs. Preoperative neuroimages indicated a giant tumor involving the middle and posterior cranial fossa with similar radiologic characteristics to benign trigeminal schwannomas. However, histopathologic and immunochemical examinations confirmed the tumor to be an MPNST. A nearly gross total resection was obtained with a combined frontotemporal extradural and subtemporal anterior petrosal approach. The postoperative course was uneventful, and the patient received adjuvant radiotherapy subsequently. There was no recurrence of the tumor with a 6-month-long follow-up. Conclusion MPNSTs of the trigeminal nerve are exceedingly rare. This study described the 21st case of MPNSTs of the trigeminal nerve. MPNSTs of the trigeminal nerve showed similar radiologic characteristics to benign trigeminal schwannomas, and accurate diagnosis depended on pathologic and immunochemical examinations. Gross total resection followed by radiotherapy is the usual treatment. [ABSTRACT FROM AUTHOR]

Objective To determine the clinical value of multiparametric whole-body (WBMRI) over whole-spine magnetic resonance imaging (WSMRI) in patients with neurofibromatosis type 1 (NF1). Methods A consecutive series of 30 patients with known NF1 underwent WBMRI screening using anatomic, diffusion, and contrast imaging over a 30-month period. Thirteen of 30 patients also had WSMRI. Tumors were classified per location and morphology and were software segmented to determine numbers and volumes. Extra tumor burden detected by WBMRI was assessed. The comparison was made between WBMRI and WSMRI in 13 patients who had both types of scans. Enhancement characteristics were noted and 2 readers recorded apparent diffusion coefficient (ADC) in 30 patients with WBMRI scans. Interobserver performance was assessed using intraclass correlations. A 2-sample test was used for testing mean differences between tumors. Results The age of 30 patients with WBMRI and 13 patients with WSMRI were 39.4 ± 14.4 and 41.54 ± 10.79 years (mean ± standard deviation) and male/female ratio was 1:1.73 and 1:2.25, respectively. Only 1 patient was found to have a heterogeneously enhancing lumbar paraspinal malignant peripheral nerve sheath tumor, seen on both WBMRI and WSMRI. The additional total number of tumors on WBMRI was 2766 and 2602 tumors were missed on WSMRI. The volume of tumors was 16,053 cm 3 and 15,614 cm 3 of tumor burden was incrementally detected on WBMRI. Mean ADC of superficial tumors was significantly lower than that of deep tumors (1.93 ± 0.39 × 10 −3 mm 2 /second and 2.26 ± 0.56 × 10 −3 mm 2 /second, respectively; P = 0.009), whereas no ADC differences were seen in plexiform versus discrete tumors ( P = 0.64). Interobserver performance for ADC was excellent (intraclass correlation, 0.84). Conclusions Multiparametric WBMRI provides superior determination of tumor burden and should be considered as a preferred method for evaluation of patients with NF1. [ABSTRACT FROM AUTHOR]

Objective Patients with neurofibromatosis type 2 (NF2) are prone to develop multiple intracranial neoplasms, such as schwannomas of the cranial nerves and meningiomas. The aim of our study was to investigate 1) the median growth rate per year, 2) the growth-free interval, and 3) the growth patterns of NF2-associated intracranial tumors. Methods All available magnetic resonance (MR) images of patients from the regional neurofibromatosis center were collected. The depicted tumors' volumes were then calculated if the tumors met the following inclusion criteria: contrast enhanced T1-weighted MRI datasets had to be available from at least two investigations and tumors had to be measurable on at least two slices. Results One-hundred and eighty-eight tumors from 52 patients (20 male, 32 female) met the inclusion criteria for volumetric analysis. Overall, the median follow-up time was 76.5 months per patient (range 13–199 months). After 5 years, the median tumor size was 196% ± 338% for vestibular schwannomas (VS), 204% ± 702% meningiomas (M), 128% ± 64.9% for non-vestibular schwannomas (NVS) and 139% ± 270% for pre-operated tumors of the cerebellopontine angle (TX), respectively. The median time to 20% tumor progression was 21 months for VS, NVS and TX, and 17 months for M. Overall, saltatory growth was the most common growth pattern (46.9%). Conclusions Most NF2-associated tumors display a saltatory growth pattern. Meningiomas and untreated vestibular schwannomas grow rapidly and overall at similar rates. Tumors of the CPA that have been operated on and non-vestibular schwannomas show less relative growth per year. [ABSTRACT FROM AUTHOR]

Although vascular abnormality is an uncommon comorbidity of neurofibromatosis type 1 (NF1), it is potentially fatal. We present spontaneous hemothorax caused by rupture of a vertebral artery (VA) aneurysm in a patient with NF1. A 36-year-old man with a history of NF1 was transferred to the emergency department with dyspnea. Chest computed tomography scan revealed hemothorax in the left lung field with mediastinal shifting and aneurysmal dilatation of the left VA at the C6 vertebra level. Immediate drainage of the hematoma by chest tube insertion was performed. Diagnostic angiogram showed a 3- to 4-cm fusiform aneurysm of the VA. After the angiogram, cardiopulmonary arrest occurred after a rebleed of the VA aneurysm. The aneurysmal segment of the VA was urgently occluded with detachable coils. Postoperatively, the patient was in intensive care for 1 month because of fulminant pneumonia. After the patient regained consciousness, he was found to have right hemiparesis from a small infarction at the pons. The patient's function improved to near normal after 1 year of recovery. Hemothorax caused by VA rupture in a patient with NF1 is an extremely rare condition that can be fatal. Careful examination with suspicion for early detection and treatment is required for this urgent condition. Endovascular coiling was safe even for an unstable patient with massive bleeding. [ABSTRACT FROM AUTHOR]

Objectives Stereotactic radiosurgery (SRS) for large vestibular schwannomas (VS) remains controversial. We studied the tumor local control and toxicity rates after hypofractionated SRS for VS > 3 cm. Methods A total of 587 patients with VS treated with SRS between 1998 and 2014 were reviewed retrospectively, and 30 Koos grade IV VSs were identified. There were 6 patients with neurofibromatosis 2 (NF2), 8 with cystic tumors, 22 with solid tumors, 19 who underwent primary CyberKnife (CK), and 11 with >3 cm after previous resection. Patients were treated by a median of 3 fractions at 18 Gy. Results After a median 97 months, the 3- and 10-year Kaplan-Meier estimates of local control were 85% and 80%, respectively, with 20% requiring salvage treatment. For patients who had previous tumor resection rather than primary CK, the estimates were 46% and 5%, respectively, with progression, and 3-year control rates of 71% and 94% ( P = 0.008). Tumor control was also lower among NF2 versus non-NF2 patients (40% vs. 95%; P = 0.0014). Among patients with good clinical baselines before CK, 88% were functionally independent (modified Rankin Scale score, 0–2), 88% had good facial function (House-Brackmann grade I–II), and 38% had serviceable hearing (Gardner-Robertson grade I–II) at last follow-up. Hearing worsening was more likely among patients treated with primary CK (33% vs. 90%; P = 0.04). Conclusions Overall, 80% of large VSs were adequately controlled by CK with 97 months of median follow-up. Patients with previous surgery and NF2 also appeared to have higher rates of tumor progression, and less favorable functional outcomes. [ABSTRACT FROM AUTHOR]

Objective To examine the relationship between immediate postoperative facial palsy and long-term facial palsy and identify a treatment strategy for vestibular schwannoma considering long-term outcomes of facial nerve function and tumor control. Methods Patients ( N = 385) who underwent surgery in a single institution were reviewed retrospectively; 12 patients with neurofibromatosis, 6 with preoperative radiosurgery, and 14 with multiple surgeries were excluded. The generalized estimating equation method was used to show the correlation between immediate and later postoperative facial palsy and to identify the cutoff grade of immediate postoperative facial palsy. Results The tumor control rates for 1 year, 3 years, and 5 years were 88.7%, 83.9%, and 80.0%. Preservation of facial function above House-Brackmann (H-B) grades 1 and 2 was achieved in 47.9% of patients immediately postoperatively, in 50.1% after 1 month, and in 74.5% after >2 years. The immediate postoperative facial palsy grade showed a statistically significant relationship with the facial palsy grade on long-term follow-up ( P < 0.001). H-B grade 3 immediate postoperative facial palsy was identified as the cutoff grade that showed the most significant relationship between the grade of immediate postoperative facial palsy and the grades above the cutoff (H-B grade 1–3) on long-term follow-up ( P < 0.001). Conclusions H-B grade of immediate postoperative facial palsy can predict facial palsy at long-term follow-up. H-B grade 3 immediate postoperative facial palsy is the lowest tolerable grade that guarantees functional improvement on long-term follow-up. Planned facial nerve preservation surgery followed by radiosurgery is thought to be optimal treatment in patients with vestibular schwannoma for both tumor control and facial nerve function. [ABSTRACT FROM AUTHOR]

Introduction Optic pathway gliomas (OPGs) are rare neoplasms in children with an unpredictable clinical course. There is significant controversy regarding the optimal management and outcome of these patients. Methods Charts of all patients with OPG diagnosed and treated at Children's Cancer Hospital Egypt between July 2007 and July 2014 were retrospectively reviewed. We evaluated the roles of surgical, ophthalmologic, endocrinologic, neurologic, and treatment aspects of care. Results Sixty-five patients were included in this study, with a mean age of 5.3 years. OPGs were chiasmatic ( n = 25), optic nerve ( n = 18), hypothalamic ( n = 7), and chiasmatic/hypothalamic ( n = 7). Extensive involvement of the optic pathway was seen in an additional 8 patients. Twenty cases had neurofibromatosis type 1. Four cases underwent surgical debulking, and 28 were biopsied (16 open, 11 stereotactic, and 1 endoscopic). Nine of the 18 optic nerve tumors were managed by total excision. Twenty-four patients did not undergo any surgical intervention. Forty-five patients received chemotherapy. Histopathology revealed pilocytic ( n = 20), pilomyxoid ( n = 15), fibrillary astrocytoma ( n = 4), and grade I papillary-glioneuronal tumor ( n = 1). Nonrepresentative sample ( n = 1). The 4-year overall survival rate was 86.3% with mean follow-up period of 32.2 months. Conclusion The initial role of surgery in newly developed OPG is biopsy for tissue diagnosis and relief of the hydrocephalus, if present, followed by chemotherapy. Chemotherapy decreases or stabilizes the tumor size in most cases, leading to preservation of both visual and endocrinal functions. The most significant prognostic factor confirmed in this study was the age of the patient. [ABSTRACT FROM AUTHOR]

Background Cerebrospinal fluid (CSF) leak during anterior cervical spine surgery can lead to complications, including wound breakdown, meningitis, headaches, need for lumbar drain, or additional surgery. These leaks can be difficult to manage given the limited field of view and lack of deep access. Herein, we describe 8 consecutive patients who underwent intraoperative repair of CSF leak, with no postoperative evidence of wound dehiscence or drainage. Methods A retrospective review was performed on 8 cases where CSF leak was encountered during an anterior cervical spine surgery. Patients had ossification of the posterior longitudinal ligament, intradural disk herniation, or dural ectasia. Intraoperative repair was as follows. First, CSF was drained to low pressure, and durotomy was covered by dural substitute and sealant agent. Then the interbody graft used was manually undersized in the anteroposterior dimension to allow for expansion of the agents used. Anterior instrumentation was then performed. Finally, a wound drain was anchored to a biologic bag for shoulder level passive drainage. Results In all 8 cases, there were no cases of wound dehiscence or CSF leak using this strategy. Likewise, there was no evidence of cord compression or neurologic deficits. No meningitis or persistent headaches were reported, and there was no need for lumbar drain placement at any time postoperatively. Conclusions Once durotomy is encountered during anterior spine surgery, draining the CSF to a low pressure followed by dural substitute with a sealing agent, followed by a smaller anteroposterior size graft is an effective strategy of preventing complications in an inescapable problem. [ABSTRACT FROM AUTHOR]

Background Phrenic neurofibromas are a rare pathologic entity, with 9 cases described in the English literature. They may occur in conjunction with or independently of neurofibromatosis type 1. Phrenic neurofibromas pose distinct therapeutic challenges compared with the more common phrenic schwannoma. We describe here a 12-year-old boy with neurofibroma of the left phrenic nerve presenting as dextroposition of the heart after paralysis of the left hemidiaphragm allowed herniation of abdominal contents into the left hemithorax and displaced the heart. Method Surgical resection of the tumor followed by diaphragmatic plication was performed to assess its degree of malignancy, reduce abdominal herniation, and improve lung capacity. Results The operation markedly improved his hemidiaphragmatic elevation. Conclusions The spectrum of management options ranges from conservative surveillance to open thoracic surgery. Functional preservation of the phrenic nerve is technically challenging, and although phrenic neurofibromas often present with absent function that cannot be recovered, surgical intervention can be fruitful in restoring lung capacity through diaphragmatic reconstruction. [ABSTRACT FROM AUTHOR]

A 31-year-old male with history of bipolar disorder, suicidal attempts requiring inpatient hospitalization, and seizures on antiepileptic medications presented with increasing seizure frequency. He was neurologically intact yet had multiple facial, axillary, and inguinal flat pigmented macules (cafe au lait spots) and ophthalmologic examination with iris hamartomas (Lisch nodules) consistent with neurofibromatosis type 1. Electroencephalogram was notable for multiple right temporal lobe seizures with anterior temporal interictal epileptiform discharges. Magnetic resonance imaging revealed a T2 hyperintense mass centered in the right amygdala, contiguous with the cystic area. Preoperative intracarotid sodium amobarbital testing showed left-sided language and memory dominance. The patient was operated on for right amygdalohippocampectomy, and initial pathology was consistent with a low-grade neuroepithelial neoplastic process. Further pathologic examination found hypercellular proliferation of predominantly bland, spindled cells with scattered, embedded neurocytic elements with dysplastic appearance, consistent with low-grade glioma. The patient was clinically diagnosed with neurofibromatosis type 1. [ABSTRACT FROM AUTHOR]

Objective Treatment of meningiomas in neurofibromatosis type II (NF2) patients is challenging because the natural history of these tumors is unclear. More insight in tumor growth and factors predicting growth may contribute to a better clinical management. In this study, growth characteristics of supratentorial NF-related meningiomas were examined and the association between tumor growth rate and location was evaluated. Methods In all NF2 patients followed up at the VU University Medical Center, who underwent a minimum of 3 consecutive scans, tumor volumes were assessed by using 3D volumetric measurement (Brainlab, Feldkirchen, Germany). Growth patterns were visually analyzed. To assess the association between tumor growth rate and tumor location, the meningiomas were divided in 3 groups on the basis of their location: skull base, convexity, and “other.” Univariable and multivariable logistic regression models were built. Results Twenty-one patients (13 females) with a mean (standard deviation) follow-up period of 5.55 (2.48) years and a total of 210 meningiomas were included in the analyses. Tumors followed different growth patterns and did not increase in size simultaneously within 1 patient. Skull base meningiomas had a significantly higher absolute growth rate compared with convexity (β = 0.91, 95% confidence interval [CI] 0.08–1.73) and “other” (β = 1.07, 95% CI 0.27–1.86) and a significantly higher relative growth rate on both linear and geometric growth rate compared with “other” (β = 90.73, 95% CI 5.50–175.95 and β = 18.63, 95% CI 2.94–34.31, respectively) on multivariable logistic regression. Conclusion Within a single patient, NF2-related meningiomas follow different growth patterns. Skull base meningiomas grow faster compared with other locations. Yearly magnetic resonance imaging scans and timely treatment of skull base meningiomas should be considered. [ABSTRACT FROM AUTHOR]