-
Asian Journal of Neurosurgery Jun 2023Spinal nerve root tumors can arise throughout the spine and at multiple levels, likely representing plexiform neurofibromas that grow from the nerve root into the...
Spinal nerve root tumors can arise throughout the spine and at multiple levels, likely representing plexiform neurofibromas that grow from the nerve root into the intraspinal space either intradurally or epidurally and exit through the neural foramen, producing a dumbbell-shaped appearance. Although many cases of dumbbell-shaped extramedullary neurofibromas in the cervical spine have been reported, to the best of our knowledge, there are no reports of trident-shaped extramedullary neurofibromas. A 26-year-old woman presented with swelling over the right side of her neck. Diagnostic workup included magnetic resonance imaging (MRI) and contrast-enhanced computed tomography (CECT) of the neck, which revealed an intradural, extramedullary tumor mass at the right C2-C6 level with an extraspinal extension. Spinal cord compression or canal compromise is the most reliable indication for surgery. The solitary cervical neurofibroma was treated surgically in a single stage through laminoplasty and excision of the intradural tumor along with that of the neck component. This was performed without any complications. A single-stage double approach was adopted in this case. After total excision, the shape of the tumor was found to be more like a trident than a dumbbell. Hence, here we would like to suggest a new nomenclature for this neurofibroma, the trident neurofibroma.
PubMed: 37397034
DOI: 10.1055/s-0043-1768579 -
Journal of the Korean Association of... Jun 2023Plexiform neurofibroma is a rare benign tumor and a special subtype of neurofibromatosis 1. This report is a literature review with a case of patient with facial...
Plexiform neurofibroma is a rare benign tumor and a special subtype of neurofibromatosis 1. This report is a literature review with a case of patient with facial hemorrhage observed at the site of neurofibroma removal in the right lower face due to minor trauma. Through PubMed search, using terms ((facial hematoma) OR (facial bleeding)) AND (neurofibromatosis), 86 articles were identified, and five related articles (six patients) were finally selected. Of the six patients, two had previously undergone embolization. However, as a result, all patients received open surgery to remove hematomas. The hemostatic methods mentioned were vascular ligation (five patients), hypotensive anesthesia (two patients), and postoperative blood transfusion (four patients). In conclusion, spontaneous or minimally traumatic bleeding is possible in neurofibromatosis patients. In most cases, it can be resolved by vascular ligation under hypotensive anesthesia. Optionally, prior embolization and supplementary tissue adhesive may be used.
PubMed: 37394935
DOI: 10.5125/jkaoms.2023.49.3.152 -
Retinal Cases & Brief Reports Jul 2023To report a case of severe retinal ischemia in an infant with neurofibromatosis type 1.
PURPOSE
To report a case of severe retinal ischemia in an infant with neurofibromatosis type 1.
METHODS
Chart review, analysis of imaging studies, and review of literature.
RESULTS
A boy born at 37 weeks postmenstrual age with neurofibromatosis type 1 was noted to have a large plexiform neurofibroma with left-sided involvement of the cavernous sinus, internal carotid artery, orbit, and optic nerve. He was managed for left eye glaucoma with anti-hypertensive eye drops, and at 8 months of age, he was referred for retinal evaluation. Fluorescein angiography showed striking nonperfusion of the left retina with only a small area of perfused vessels in the posterior pole. A large frond of neovascularization extended anteriorly from the posterior pole. The right eye had a crescent of retinal nonperfusion in the far periphery but otherwise normal retinal vessels.
CONCLUSION
This case demonstrates a severe form of retinal ischemia in the setting of a large neurofibroma because of neurofibromatosis type 1. We hypothesize that vascular compression from the tumor led to disruption of the neurovascular bundle with resultant severe nonperfusion, neovascularization, and retinal maldevelopment.
Topics: Male; Humans; Infant; Neurofibromatosis 1; Retinal Diseases; Retinal Vessels; Fluorescein Angiography; Neovascularization, Pathologic; Glaucoma; Ischemia
PubMed: 37364211
DOI: 10.1097/ICB.0000000000001221 -
Orphanet Journal of Rare Diseases Jun 2023Cardiovascular events such as myocardial infarction and stroke are life-threatening complications associated with Neurofibromatosis type 1 (NF1). As previous studies...
BACKGROUND
Cardiovascular events such as myocardial infarction and stroke are life-threatening complications associated with Neurofibromatosis type 1 (NF1). As previous studies observed an association between cardiovascular events and the loss of circadian variations of blood pressure, we investigated the 24 h circadian rhythm of blood pressure (BP) in 24 NF1 patients (10 males and 14 females, with a mean age of 39.5 years ± 14 years) by using ambulatory blood pressure monitoring (ABPM).
RESULTS
Only one-third of the patient were dippers, 50% were non-dippers, and 17% were risers. Reduced variability of systolic and diastolic nocturnal blood pressure was observed in NF1 patients compared with several studies of normotensive individuals (p = 0.024). In NF1 patients, the blunted systolic nocturnal decline was significantly associated with the number of neurofibromas (p = 0.049) and the presence of a plexiform neurofibroma (p = 0.020).
CONCLUSIONS
Most NF1 patients in this study showed a "non-dipper" pattern with a blunted nocturnal BP decline, which is considered an independent risk factor for cardiovascular events in normotensive and hypertensive individuals. Periodic monitoring of BP should be included in NF1 follow-up guidelines to diagnose masked hypertension or a non-dipper/riser pattern which would significantly increase the morbidity and mortality of NF1 patients to implement therapeutic strategies.
Topics: Male; Female; Humans; Adult; Blood Pressure; Blood Pressure Monitoring, Ambulatory; Neurofibromatosis 1; Hypertension; Circadian Rhythm
PubMed: 37353803
DOI: 10.1186/s13023-023-02766-7 -
Cancers May 2023Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that increases one's risk for both benign and malignant tumors. NF1 affects every... (Review)
Review
Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that increases one's risk for both benign and malignant tumors. NF1 affects every organ in the body, but the most distinctive symptoms that are often the most bothersome to patients are the cutaneous manifestations, which can be unsightly, cause pain or pruritus, and have limited therapeutic options. In an effort to increase awareness of lesser-known dermatologic associations and to promote multidisciplinary care, we conducted a narrative review to shed light on dermatologic associations of NF1 as well as emerging treatment options. Topics covered include cutaneous neurofibromas, plexiform neurofibromas, diffuse neurofibromas, distinct nodular lesions, malignant peripheral nerve sheath tumors, glomus tumors, juvenile xanthogranulomas, skin cancer, and cutaneous T-cell lymphoma.
PubMed: 37345107
DOI: 10.3390/cancers15102770 -
Child's Nervous System : ChNS :... Nov 2023Plexiform neurofibromas are the hallmark of neurofibromatosis type 1 (NF1) and significantly contribute to the overall burden of disease. While surgical excision has...
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.
Topics: Humans; Neurofibroma, Plexiform; Neurofibroma; Neurofibromatosis 1; Europe
PubMed: 37344677
DOI: 10.1007/s00381-023-06029-5 -
Ophthalmic Plastic and Reconstructive...A 27-year-old woman with well-documented neurofibromatosis 2 developed a soft, painless, nodular lesion on the skin surface of the left upper eyelid over 2 years....
A 27-year-old woman with well-documented neurofibromatosis 2 developed a soft, painless, nodular lesion on the skin surface of the left upper eyelid over 2 years. Following excision, histopathology revealed a plexiform neurofibroma with intradermal nodules comprised of benign round and spindle cells that reacted diffusely with immunohistochemical stains SOX-10 and S100. A subset showed focal reactivity for neurofilament and CD34. A perineurium surrounded each nodule with cells staining positively for markers EMA (epithelial membrane antigen) and GLUT1 (glucose transporter 1). Plexiform neurofibromas are rare tumors that occur in 5%-15% of patients with neurofibromatosis 1. Cutaneous abnormalities in neurofibromatosis 2 have not been widely studied although reports have described schwannomas, plexiform schwannomas, and occasional neurofibromas. Plexiform neurofibromas in neurofibromatosis 2 have rarely been illustrated and the current case represents a unique bona fide eyelid example to date.
Topics: Female; Humans; Adult; Neurofibroma, Plexiform; Neurofibromatosis 2; Neurofibromatosis 1; Neurilemmoma; Eyelids; Neurofibroma
PubMed: 37338324
DOI: 10.1097/IOP.0000000000002432 -
BMC Cancer Jun 2023Neurofibromatosis type 1 (NF1), the most common tumor predisposition syndrome, occurs when NF1 gene variants result in loss of neurofibromin, a negative regulator of RAS... (Review)
Review
Neurofibromatosis type 1 (NF1), the most common tumor predisposition syndrome, occurs when NF1 gene variants result in loss of neurofibromin, a negative regulator of RAS activity. Plexiform neurofibromas (PN) are peripheral nerve sheath tumors that develop in patients with NF1 and are associated with substantial morbidity and for which, until recently, the only treatment was surgical resection. However, surgery carries several risks and a proportion of PN are considered inoperable. Understanding the genetic underpinnings of PN led to the investigation of targeted therapies as medical treatment options, and the MEK1/2 inhibitor selumetinib has shown promising efficacy in pediatric patients with NF1 and symptomatic, inoperable PN. In a phase I/II trial, most children (approximately 70%) achieved reduction in tumor volume accompanied by improvements in patient-reported outcomes (decreased tumor-related pain and improvements in quality of life, strength, and range of motion). Selumetinib is currently the only licensed medical therapy indicated for use in pediatric patients with symptomatic, inoperable NF1-PN, with approval based on the results of this pivotal clinical study. Several other MEK inhibitors (binimetinib, mirdametinib, trametinib) and the tyrosine kinase inhibitor cabozantinib are also being investigated as medical therapies for NF1-PN. Careful consideration of multiple aspects of both disease and treatments is vital to reduce morbidity and improve outcomes in patients with this complex and heterogeneous disease, and clinicians should be fully aware of the risks and benefits of available treatments. There is no single treatment pathway for patients with NF1-PN; surgery, watchful waiting, and/or medical treatment are options. Treatment should be individualized based on recommendations from a multidisciplinary team, considering the size and location of PN, effects on adjacent tissues, and patient and family preferences. This review outlines the treatment strategies currently available for patients with NF1-PN and the evidence supporting the use of MEK inhibitors, and discusses key considerations in clinical decision-making.
Topics: Child; Humans; Neurofibromatosis 1; Neurofibroma, Plexiform; Quality of Life; Protein Kinase Inhibitors; Mitogen-Activated Protein Kinase Kinases
PubMed: 37328781
DOI: 10.1186/s12885-023-10996-y -
Cureus May 2023Neurofibromatosis type 1 (NF-1) is the most common neurocutaneous syndrome. Despite its more common appearance relative to other phakomatoses, it has a large variety of...
Neurofibromatosis type 1 (NF-1) is the most common neurocutaneous syndrome. Despite its more common appearance relative to other phakomatoses, it has a large variety of disease manifestations that can, at times, make swift diagnosis more challenging if not readily recognized, especially when presenting in an atypical manner. Our case reveals an unusual presentation of NF-1. After initially presenting with a bug bite on the lip with progressive swelling and surrounding inflammatory changes despite treatment with oral antibiotics, a CT scan was performed and demonstrated inflammatory changes surrounding the lip with an adjacent inflammatory mass lesion. Due to hypoattenuating lesions within the retropharyngeal space and misinterpretation by the otorhinolaryngologist, aspiration was attempted but unsuccessful, and the patient's condition worsened. Subsequent MRI was able to confirm the presence of numerous neurofibromas. The patient gradually improved on an extended course of antibiotics and was discharged in stable condition. Familiarizing oneself with the more specific imaging characteristics of this relatively common neurocutaneous disorder can help prevent incorrect or delayed diagnosis and ensure proper management. Furthermore, identifying these features on CT scan and MRI can differentiate them from other mimicking pathologies on each modality. Recognition of a scarcely reported infected neurofibroma as an established diagnostic entity could be important to include in the differential of similar cases in the future and subsequently aid in proper diagnosis and management.
PubMed: 37323322
DOI: 10.7759/cureus.39013 -
Neuropediatrics Dec 2023This article obtains an overview of the health status of children and adolescents with neurofibromatosis type 1 (NF1) with a focus on the clinical course of the disease,... (Observational Study)
Observational Study
This article obtains an overview of the health status of children and adolescents with neurofibromatosis type 1 (NF1) with a focus on the clinical course of the disease, neuropsychodiagnostic findings, and their impact on quality of life (QoL). In this observational study, data were collected from 24 children and adolescents with NF1 who were cared for at the University Hospital in Innsbruck, Austria, from 2008 to 2022. Data were collected every 6 to 12 months from routine check-ups, including clinical features and imaging findings. Results of neuropsychodiagnostic tests and the KINDL questionnaire to assess QoL were included. Of 24 patients, 15 underwent a neuropsychological examination. Attention performance was examined in 11 of them. Eight of 11 (72%) showed an attention deficit. Assessment for specific developmental disorders showed visual-spatial difficulties in 12/15 (80%) patients. The KINDL questionnaire values ranged from 58.22 to 97.92 (0 stands for reduced QoL, 100 for very good QoL). Patients with scoliosis had a lower range of QoL (56.33-73.96). No trend in QoL was observed in children and adolescents with plexiform neurofibromas, below-average intelligence or optic gliomas. NF1 patients show very different clinical courses. Regular neuropsychological assessment especially with regard to visual-spatial skills and attention deficits is necessary to offer appropriate support, promote children's development, and thus improve their QoL.
Topics: Humans; Child; Adolescent; Neurofibromatosis 1; Quality of Life; Neurofibroma, Plexiform; Attention Deficit Disorder with Hyperactivity; Surveys and Questionnaires
PubMed: 37321252
DOI: 10.1055/s-0043-1768988