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https://www.readbyqxmd.com/read/28820301/translabyrinthine-microsurgical-resection-of-small-vestibular-schwannomas
#1
Marc S Schwartz, Gregory P Lekovic, Mia E Miller, William H Slattery, Eric P Wilkinson
OBJECTIVE Translabyrinthine resection is one of a number of treatment options available to patients with vestibular schwannomas. Though this procedure is hearing destructive, the authors have noted excellent clinical outcomes for patients with small tumors. The authors review their experience at a tertiary acoustic neuroma referral center in using the translabyrinthine approach to resect small vestibular schwannomas. All operations were performed by a surgical team consisting of a single neurosurgeon and 1 of 7 neurotologists...
August 18, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28820281/isolated-cranio-orbitofacial-neurofibroma-mimicking-vascular-malformation
#2
Harinder S Chahal, Brandon Kuiper, Puneet S Braich, A Tyrone Glover
Isolated neurofibromas in the absence of systemic neurofibromatosis are known as solitary or localized neurofibromas. When present in the orbit, these lesions may appear clinically and radiographically similar to other tumors, complicating diagnosis and management. Key radiographic signs may guide clinicians to the correct diagnosis when the presentation and patient demographic data obfuscate the disease entity. We present a case of a large multi-lobulated neurofibroma misdiagnosed as a lymphangioma. A brief review of these tumors emphasizing key radiographic features is also included...
August 18, 2017: Orbit
https://www.readbyqxmd.com/read/28815922/the-pregnancy-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#3
Jussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Susanna Timonen, Juha Peltonen, Sirkku Peltonen
The objective of this retrospective total population study was to form a view of the pregnancies of the patients with neurofibromatosis type 1 (NF1). A cohort of 1,410 Finnish patients with NF1 was acquired by searching NF1-related inpatient and outpatient hospital visits and confirming the diagnoses by reviewing the medical records. Ten matched control persons per patient with NF1 were collected from Population Register Centre. Study persons were linked to data from Medical Birth Register and Care Register for Health Care through the personal identity code...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28812461/soft-tissue-perineurioma-in-a-child-with-neurofibromatosis-type-1-a-case-report-and-review-of-the-literature
#4
Mudher Al-Adnani
Soft tissue perineurioma is a rare benign peripheral nerve sheath tumor, especially in children. This manuscript presents an unusual case of soft tissue perineurioma in a 10-year-old boy with neurofibromatosis type 1. The patient presented with a lump in the region of the right breast. A subcutaneous, well circumscribed mass was removed. The cut surface was cream with a vaguely nodular appearance. Histology showed a spindle cell lesion with variable architecture and biphasic morphology. There was no nuclear atypia or pleomorphism...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28806346/optic-pathway-gliomas-in-neurofibromatosis-type-1-an-update-surveillance-treatment-indications-and-biomarkers-of-vision
#5
Peter M K de Blank, Michael J Fisher, Grant T Liu, David H Gutmann, Robert Listernick, Rosalie E Ferner, Robert A Avery
Optic pathway gliomas (OPGs) occur in 15%-20% of children with neurofibromatosis type 1 (NF1), leading to visual deficits in fewer than half of these individuals. The goal of chemotherapy is to preserve vision, but vision loss in NF1-associated OPG can be unpredictable. Determining which child would benefit from chemotherapy and, equally important, which child is better observed without treatment can be difficult. Unfortunately, despite frequent imaging and ophthalmologic evaluations, some children experience progressive vision loss before treatment...
September 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28806327/long-term-quality-of-life-following-vestibular-schwannoma-excision-via-the-translabyrinthine-approach
#6
Stephen J Broomfield, Ashish K Mandavia, Jack S Nicholson, Osama Mahmoud, Andrew T King, Scott A Rutherford, Richard T Ramsden
OBJECTIVE: To assess postoperative quality of life (QOL) and other patient-reported outcomes following surgery for vestibular schwannoma. STUDY DESIGN: Cross-sectional retrospective case review using postal questionnaires. SETTING: Tertiary referral center. PATIENTS: Five hundred consecutive patients undergoing surgery for vestibular schwannoma. INTERVENTION(S): Patients undergoing surgery via the translabyrinthine approach (excluding neurofibromatosis type 2) under the senior author, with a minimum of 5 years follow-up, were included...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28781128/six-cases-of-sporadic-schwannomatosis-topographic-distribution-and-outcomes-of-peripheral-nerve-tumors
#7
G Chick, J Victor, N Hollevoet
The diagnosis of schwannomatosis is often overestimated and is based on the existence of multiple peripheral nerve tumors composed exclusively of schwannomas, in the absence of clinical signs of neurofibromatosis type 2 (NF2). Sporadic forms are much more frequent than familial forms. The objective of this study was to describe the distribution of peripheral nerve tumors and investigate the outcomes of schwannomas in the context of sporadic schwannomatosis. We conducted a retrospective study of patients who fulfilled clinical diagnostic criteria for sporadic schwannomatosis...
August 3, 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28764992/impact-on-gaba-systems-in-monogenetic-developmental-cns-disorders-clues-to-symptomatic-treatment
#8
REVIEW
Dietmar Benke, Hanns Möhler
Animal studies of several single-gene disorders demonstrate that reversing the molecular signaling deficits can result in substantial symptomatic improvements in function. Focusing on the ratio of excitation to inhibition as a potential pathophysiological hallmark, seven single-gene developmental CNS disorders are reviewed which are characterized by a striking dysregulation of neuronal inhibition. Deficits in inhibition and excessive inhibition are found. The examples of developmental disorders encompass Neurofibromatosis type 1, Fragile X syndrome, Rett syndrome, Dravet syndrome including autism-like behavior, NONO-mutation-induced intellectual disability, Succinic semialdehyde dehydrogenase deficiency and Congenital nystagmus due to FRMD7 mutations...
July 29, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28764304/large-solitary-neurofibroma-of-face-in-a-paediatric-patient
#9
Kumar Nilesh, Ramchandra G Naniwadekar, Aaditee V Vande
Neurofibroma is a rare, benign, neurogenic tumour which may present as multiple lesions as a part of neurofibromatosis syndrome or as a solitary mass. This paper reports a case of large solitary neurofibroma of face in a young female patient. Clinical presentation, imaging characteristics and management of the pathology has been described in detail. The paper also reviews English literature for similar cases.
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28761511/genetic-associations-of-intracranial-aneurysm-formation-and-sub-arachnoid-hemorrhage
#10
REVIEW
Christian B Theodotou, Brian M Snelling, Samir Sur, Diogo C Haussen, Eric C Peterson, Mohamed Samy Elhammady
Risk factors for cerebral aneurysms typically include age, hypertension, smoking, and alcohol usage. However, the possible connection of aneurysms with genetic conditions such as Marfan's syndrome, polycystic kidney disease, and neurofibromatosis raises the question of possible genetic risk factors for aneurysm, and additionally, genetic risk factors for rupture. We conducted a literature review using the PubMed database for studies regarding genetic correlation with cerebral aneurysm formation as well as rupture from December 2008 to Jun 2015...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28731398/management-of-multiple-meningiomas
#11
Georgios Tsermoulas, Mazda K Turel, Jared T Wilcox, David Shultz, Richard Farb, Gelareh Zadeh, Mark Bernstein
OBJECTIVE Multiple meningiomas account for 1%-10% of meningiomas. This study describes epidemiological aspects of the disease and its management, which is more challenging than for single tumors. METHODS A consecutive series of adult patients with ≥ 2 spatially separated meningiomas was reviewed. Patients with neurofibromatosis Type 2 were excluded. The authors collected clinical, imaging, histological, and treatment data to obtain information on epidemiology, management options, and outcomes of active treatment and surveillance...
July 21, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28686121/surgical-and-molecular-considerations-in-the-treatment-of-pediatric-thalamopeduncular-tumors
#12
Ryan P Lee, Kimberly A Foster, Jock C Lillard, Paul Klimo, David W Ellison, Brent Orr, Frederick A Boop
OBJECTIVE Thalamopeduncular tumors are a group of pediatric low-grade gliomas that arise at the interface of the thalamus and brainstem peduncle. They typically occur within the first 2 decades of life, presenting with progressive spastic hemiparesis. Treatment strategies, including surgical intervention, have varied significantly. The authors present their experience in the treatment of 13 children, ages 2-15 years, with non-neurofibromatosis-related pilocytic astrocytomas located in the thalamopeduncular region...
July 7, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28686119/management-of-peripheral-nerve-sheath-tumors-17-years-of-experience-at-toronto-western-hospital
#13
Daipayan Guha, Benjamin Davidson, Mustafa Nadi, Naif M Alotaibi, Michael G Fehlings, Fred Gentili, Taufik A Valiante, Charles H Tator, Michael Tymianski, Abhijit Guha, Gelareh Zadeh
OBJECTIVE A surgical series of 201 benign and malignant peripheral nerve sheath tumors (PNSTs) was assessed to characterize the anatomical and clinical presentation of tumors and identify predictors of neurological outcome, recurrence, and extent of resection. METHODS All surgically treated PNSTs from the Division of Neurosurgery at Toronto Western Hospital from 1993 to 2010 were reviewed retrospectively. Data were collected on patient demographics, clinical presentation, surgical technique, extent of resection, postoperative neurological outcomes, and recurrence...
July 7, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28664009/orbital-abducens-nerve-schwannoma-a-case-report-and-review-of-the-literature
#14
Yu Iida, Katsumi Sakata, Natsuki Kobayashi, Junya Tatezuki, Hiroshi Manaka, Takashi Kawasaki
Intraorbital schwannoma is a rare tumor which accounts for about 1-2% of all neoplasms of the orbit. Orbital schwannomas most commonly arise from the sensory branches of the trigeminal nerve. On the other hand, intraorbital abducens nerve schwannomas are extremely rare, with a search of the English literature identifying only four cases of intraorbital abducens nerve schwannoma. This is the 5th reported case of an orbital schwannoma arising from the terminal branch of the abducens nerve to the lateral rectus muscle...
October 2016: NMC Case Rep J
https://www.readbyqxmd.com/read/28658406/malignant-peripheral-nerve-sheath-tumor-with-and-without-neurofibromatosis-type-1
#15
COMPARATIVE STUDY
Roberto André Torres de Vasconcelos, Pedro Guimarães Coscarelli, Regina Papais Alvarenga, Marcus André Acioly
Objective: In this study, we review the institution's experience in treating malignant peripheral nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between MPNSTs with and without neurofibromatosis type 1 (NF1). Methods: Ninety-two patients with MPNSTs, over a period of 20 years, were reviewed. A retrospective chart review was performed. The median age was 43.5 years (range, 3-84 years) and 55.4% were female; 41 patients (44.6%) had NF1-associated tumors...
June 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28655484/-anterior-skull-base-schwannoma
#16
Miguel Esquivel-Miranda, Elier De la O Ríos, Emmanuelle Vargas-Valenciano, Eva Moreno-Medina
Schwannomas are nerve sheath tumours that originate in Schwann cells. They are usually solitary and sporadic and manifest on peripheral, spinal or cranial nerves. Intracranial schwannomas tend to manifest on the eighth cranial nerve, particularly in patients with neurofibromatosis type2. Anterior skull-base schwannomas represent less than 1% of all intracranial schwannomas. They are more frequent in young people and are typically benign. These tumours represent a diagnostic challenge due to their rarity and difficult differential diagnosis, and numerous theories have been postulated concerning their origin and development...
June 24, 2017: Neurocirugía
https://www.readbyqxmd.com/read/28650561/craniosynostosis-in-patients-with-rasopathies-accumulating-clinical-evidence-for-expanding-the-phenotype
#17
Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto
RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28643916/a-review-of-craniofacial-and-dental-findings-of-the-rasopathies
#18
REVIEW
H Cao, N Alrejaye, O D Klein, A F Goodwin, S Oberoi
OBJECTIVES: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM)...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643039/primary-intraventricular-meningiomas-in-children-experience-of-two-cases-with-review-of-literature
#19
Kapil D Muley, Salman T Shaikh, Chandrashekhar E Deopujari, Uday B Andar
Meningiomas are rare in the pediatric age group, more so in the intraventricular location. They arise in the lateral ventricles from the arachnoid cells contained within the choroid plexus, in the third ventricle from the velum interpositum and in the fourth ventricle from the choroids. These tumors are usually large and have an aggressive behaviour. Surgical management of intra-ventricular meningiomas is challenging because of their deep location, large size at presentation and increased vascularity. The authors report two such cases who presented with symptoms of raised intra cranial pressure and on evaluation were found to have associated hydrocephalus...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28640700/cns-tumors-in-neurofibromatosis
#20
Jian Campian, David H Gutmann
Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2...
July 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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