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    16150 results match your criteria Neurofibromatosis

    1 OF 323

    Iris juvenile xanthogranuloma in an infant - spontaneous hyphema and secondary glaucoma.
    Rom J Ophthalmol 2017 Jul-Sep;61(3):229-236
    Opthalmology Clinic, "Sf. Spiridon" University Hospital, Iași, Romania.
    Juvenile xanthogranuloma (JXG) is a benign histiocytic skin disorder mainly encountered during infancy and childhood. Although with multiple potential localizations, less than 1% of the cases exhibit ocular manifestations. Some of these might lead to serious complications, specifically, secondary glaucoma that can result in severe and blinding eye disease. Read More

    Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
    Cold Spring Harb Mol Case Stud 2018 Feb 15. Epub 2018 Feb 15.
    Ohio State University.
    Metaplastic breast carcinoma (MBC) is rare and has a poor prognosis. Here we describe genetic analysis of a 41-year-old female patient with MBC and neurofibromatosis type I (NF1). She initially presented with pT3N1a, grade 3 MBC, but lung metastases were discovered subsequently. Read More

    A brief report of plexiform neurofibroma.
    Curr Probl Cancer 2018 Jan 10. Epub 2018 Jan 10.
    Hearing Disorders Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Plexiform neurofibroma (PNF) is a rare variant of neurofibromatosis type1 (NF-1), which histopathologically, is a subtype of benign nerve sheath tumors, neurofibromas (NF). It develops as a result of proliferation in all parts of peripheral nervous system and can cause the functional damage, deformities, pain, considerable mortality, and morbidity and even the increasing risk of malignant transformation in some critical cases. Currently, the surgical intervention is the treatment of choice for PNF patients, which due to the tumor invasion, massive growth, and the chance of postoperative regrowth is not possible. Read More

    Isolated bladder schwannoma: a rare presentation.
    BMJ Case Rep 2018 Feb 14;2018. Epub 2018 Feb 14.
    Department of Urology, Frimley Health NHS Foundation Trust, Slough, UK.
    Bladder schwannoma is a rare tumour arising from Schwann cells in nerve sheaths. It is usually more common in patients diagnosed with neurofibromatosis. However, isolated cases of urinary bladder schwannoma is incredibly rare, attributing to <0. Read More

    Retin Cases Brief Rep 2018 Feb 13. Epub 2018 Feb 13.
    World Eye Hospitals, Tunus Cad, Ankara, Turkey.
    Background: To report a coincidentally discovered retinal astrocytic hamartoma in an asymptomatic older woman with no history of tuberous sclerosis or neurofibromatosis.

    Methods: A 63-year-old Turkish woman underwent routine ophthalmic examination.

    Results: Visual acuity was 20/25 in each eye. Read More

    Molecular characterization and pathogenesis of gastrointestinal stromal tumor.
    Transl Gastroenterol Hepatol 2018 9;3. Epub 2018 Jan 9.
    Department of Molecular Diagnostic Pathology, School of Medicine, Iwate Medical University, Morioka, Japan.
    Most gastrointestinal stromal tumors (GISTs) harbor activating mutations in the receptor tyrosine kinase geneor platelet-derived growth factor receptor alpha (), and the resultant activation of downstream signals plays a pivotal role in the development of GISTs. The sites of the tyrosine kinase gene mutations are associated with the biological behavior of GISTs, including risk category, clinical outcome and drug response. Mutations in RAS signaling pathway genes, including KRAS and BRAF, have also been reported inwild-type GISTs, though they are rare. Read More

    Plexiform Neurofibroma in the Axilla with Intraosseous Neurofibroma in the Humerus in Neurofibromatosis 5.
    J Clin Imaging Sci 2018 30;8. Epub 2018 Jan 30.
    Department of Radiodiagnosis, Dr. D. Y. Patil Medical College and Research Center, Dr. D.Y. Patil Vidyapeeth, Pune, Maharashtra, India.
    Segmental neurofibromatosis type 5 (NF5) is a rare form of NF, in which the cutaneous and/or neural changes are confined to one region of the body. It is often underdiagnosed or undetected due to the absence of symptoms. Inheritance of NF is different from other types of NF. Read More

    Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.
    J Pediatr Genet 2018 Mar 4;7(1):1-8. Epub 2018 Jan 4.
    Department of Otolaryngology - Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, United States.
    Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF. Read More

    Targeting the cMET pathway augments radiation response without adverse effect on hearing in NF2 schwannoma models.
    Proc Natl Acad Sci U S A 2018 Feb 9. Epub 2018 Feb 9.
    Edwin L. Steele Laboratories, Department of Radiation Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114;
    Neurofibromatosis type II (NF2) is a disease that needs new solutions. Vestibular schwannoma (VS) growth causes progressive hearing loss, and the standard treatment, including surgery and radiotherapy, can further damage the nerve. There is an urgent need to identify an adjunct therapy that, by enhancing the efficacy of radiation, can help lower the radiation dose and preserve hearing. Read More

    'If there were water we should stop and drink': neurofibromatosis presenting with diabetes insipidus.
    BMJ Case Rep 2018 Feb 11;2018. Epub 2018 Feb 11.
    Department of Neurology, Mercy University Hospital, Cork, Ireland.
    A 58-year-old right-handed woman presented to our institution with a 1-month history of polydipsia and polyuria. She had a remote history of neurofibroma excision by dermatology and, on examination, was noted to meet the clinical diagnostic criteria for neurofibromatosis type 1. Laboratory investigations revealed hypernatraemia and elevated serum osmolality, accompanied by reduced urinary osmolality. Read More

    Imaging Findings of Jugular Foramen Meningocele in a Neurofibromatosis Type 1 Patient.
    Case Rep Radiol 2017 24;2017:7047696. Epub 2017 Dec 24.
    Gulhane Training and Research Hospital, Department of Radiology, University of Health Sciences, Ankara, Turkey.
    Neurofibromatosis type I (NF1) is a neurocutaneous disorder that involves autosomal dominant transmission. Skull defects, including sphenoid dysplasia and calvarial defects, are a rare finding in patients with NF1. Spinal meningocele and sphenoid wing dysplasia have been identified in NF1 but the occurrence of meningoceles at the skull base is extremely rare. Read More

    Supernumerary Molars and Wisdom Tooth Shape Alterations in Patients with Neurofibromatosis Type 1.
    J Oral Maxillofac Res 2017 Oct-Dec;8(4):e5. Epub 2017 Dec 31.
    Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, HamburgGermany.
    Objectives: The purpose of the present study was the systematic investigation of numerical and morphological aberrations of teeth in the wisdom teeth region in neurofibromatosis type 1 patients.

    Material And Methods: The panoramic radiographs of 179 patients were analysed for supernumerary molars and dysplastic wisdom teeth with special reference to facial tumour type. The results were compared to radiographic findings obtained in panoramic radiographs of age- and sex-matched controls. Read More

    Extraspinal-Interdural Surgical Approach for C2 Neurinomas-Report of an Experience with 50 Cases.
    World Neurosurg 2018 Feb;110:575-582
    Department of Neurosurgery, King Edward Memorial Hospital and Seth G. S. Medical College, Parel, Mumbai, India.
    Objective: We report our experience with surgery in 50 patients with C2 neurinomas. The anatomic subtleties of these discrete forms of tumors and their surgical implications are analyzed.

    Methods: During the period 2006-2016, we operated on 50 patients with 55 C2 neurinomas. Read More

    Neurocutaneous Disorders.
    Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):96-129
    Purpose Of Review: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices.

    Recent Findings: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti. Read More

    The difficulty of predicting clinical outcome after intended submaximal resection of large vestibular Schwannomas.
    J Clin Neurosci 2018 Feb 8. Epub 2018 Feb 8.
    Department of Neurosurgery, University Hospital Münster, Münster, Germany. Electronic address:
    Introduction: Intended subtotal resection of large vestibular schwannomas (T4a and b according to the Hannover classification system) has been shown to be safe and, in combination with stereotactic radiosurgery, might enable sufficient tumor control. However, risk factors for postoperative neurological deterioration in these surgically challenging lesions are largely unknown.

    Methods: Pre- and postoperative symptoms, clinical and radiological data of patients who underwent intended subtotal resection for vestibular schwannoma in our department between 2010 and 2014 were reviewed. Read More

    Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls.
    J Genet Couns 2018 Feb 10. Epub 2018 Feb 10.
    Frambu Resource Centre for Rare Disorders, Sandbakkvn 18, Siggerud, Norway.
    Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples. Read More

    Programmed death ligand 1 expression and tumor infiltrating lymphocytes in neurofibromatosis type 1 and 2 associated tumors.
    J Neurooncol 2018 Feb 9. Epub 2018 Feb 9.
    Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
    Immune checkpoint inhibitors targeting programmed cell death 1 (PD-1) or its ligand (PD-L1) have been shown to be effective in treating patients with a variety of cancers. Biomarker studies have found positive associations between clinical response rates and PD-L1 expression on tumor cells, as well as the presence of tumor infiltrating lymphocytes (TILs). It is currently unknown whether tumors associated with neurofibromatosis types 1 and 2 (NF1 and NF2) express PD-L1. Read More

    Differences in MWCNT- and SWCNT-induced DNA methylation alterations in association with the nuclear deposition.
    Part Fibre Toxicol 2018 Feb 9;15(1):11. Epub 2018 Feb 9.
    Laboratory of Toxicology, Unit of Environment and Health, Department of Public Health and Primary Care, KU Leuven, 3000, Leuven, Belgium.
    Background: Subtle DNA methylation alterations mediated by carbon nanotubes (CNTs) exposure might contribute to pathogenesis and disease susceptibility. It is known that both multi-walled carbon nanotubes (MWCNTs) and single-walled carbon nanotubes (SWCNTs) interact with nucleus. Such, nuclear-CNT interaction may affect the DNA methylation effects. Read More

    Optic pathway-hypothalamic glioma hemorrhage: a series of 9 patients and review of the literature.
    J Neurosurg 2018 Feb 9:1-9. Epub 2018 Feb 9.
    Department of Pediatric Neurosurgery, International Israel Neurofibromatosis Center (IINFC), Dana Children's Hospital, Tel Aviv Medical Center, Tel Aviv University, Israel.
    OBJECTIVE Hemorrhage (also known as apoplexy) in optic pathway gliomas (OPGs) is rare. Because of the variable presentations and low incidence of OPG hemorrhages, little is known about their clinical course and the best treatment options. The aim of this work was to review risk factors, clinical course, and treatment strategies of optic glioma hemorrhages in the largest possible number of cases. Read More

    Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1).
    J Autism Dev Disord 2018 Feb 8. Epub 2018 Feb 8.
    Department of Child and Adolescent Psychiatry/Psychology, Erasmus Medical Center-Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands.
    In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)-and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10. Read More

    Chemopreventative celecoxib fails to prevent schwannoma formation or sensorineural hearing loss in genetically engineered murine model of neurofibromatosis type 2.
    Oncotarget 2018 Jan 24;9(1):718-725. Epub 2017 Oct 24.
    Wells Center for Pediatric Research, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
    Mutations in the tumor suppressor genelead to Neurofibromatosis type 2 (NF2), a tumor predisposition syndrome characterized by the development of schwannomas, including bilateral vestibular schwannomas with complete penetrance. Recent work has implicated the importance of COX-2 in schwannoma growth. Using a genetically engineered murine model of NF2, we demonstrate that selective inhibition of COX-2 with celecoxib fails to prevent the spontaneous development of schwannomas or sensorineural hearing loss, despite elevated expression levels of COX-2 in-deficient tumor tissue. Read More

    Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.
    Orphanet J Rare Dis 2018 Feb 7;13(1):31. Epub 2018 Feb 7.
    Department of Genetics, University of Alabama, 720 20th Street South, Birmingham, AL, 35294, USA.
    Background: Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneous neurofibromas manifest in > 99% of adults with NF1 and are responsible for major negative effects on quality of life. Read More

    The Characteristics of 76 Atypical Neurofibromas as Precursors to Neurofibromatosis 1 Associated Malignant Peripheral nerve Sheath Tumors.
    Neuro Oncol 2018 Feb 2. Epub 2018 Feb 2.
    Neurofibromatosis Center, Department of Neurology, Guy's and St. Thomas' NHS Foundation Trust, London and King's College, London, England.
    Background: Neurofibromatosis 1 (NF1) leads to the development of benign and malignant peripheral nerve sheath tumors (MPNST). MPNST have been described to develop in pre-existing benign plexiform neurofibromas (PN) and have a poor prognosis. Atypical neurofibromas (ANF) were recently described as precursor lesions for MPNST, making early detection and management of ANF a possible strategy to prevent MPNST. Read More

    Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
    Neuro Oncol 2018 Feb 2. Epub 2018 Feb 2.
    Service de Génétique et Biologie Moléculaires, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.
    Background: Clinical overlap between neurofibromatosis type 2 (NF2), schwannomatosis, and meningiomatosis can make clinical diagnosis difficult. Hence, molecular investigation of germline and tumor tissues may improve the diagnosis.

    Methods: We present the targeted next generation sequencing (NGS) of NF2, SMARCB1, LZTR1, SMARCE1, and SUFU tumor suppressor genes, using an amplicon-based approach. Read More

    Nf2 Mutation in Schwann Cells Delays Functional Neural Recovery Following Injury.
    Neuroscience 2018 Feb 3. Epub 2018 Feb 3.
    Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, United States; Department of Neurosurgery, University of Iowa, Iowa City, IA 52242, United States. Electronic address:
    Merlin is the protein product of the NF2 tumor suppressor gene. Germline NF2 mutation leads to neurofibromatosis type 2 (NF2), characterized by multiple intracranial and spinal schwannomas. Patients with NF2 also frequently develop peripheral neuropathies. Read More

    Malignant peripheral nerve sheath tumor of the trigeminal nerve involving the middle and posterior cranial fossa.
    World Neurosurg 2018 Feb 2. Epub 2018 Feb 2.
    Although benign trigeminal schwannomas are uncommon, malignant peripheral nerve sheath tumors (MPNSTs) of the trigeminal nerve are extraordinarily rare. This study aimed to describe an exceedingly rare case of MPNST of the trigeminal nerve involving the middle and posterior cranial fossa. Only 20 similar cases of MPNSTs of the trigeminal nerve have been reported so far. Read More

    Cardiac malignant peripheral nerve sheath tumours arising from atrial neurofibroma as an unusual complication of neurofibromatosis.
    Kardiol Pol 2018 ;76(1):214
    1st Clinic of Cardiology and Electrotherapy, Faculty of Medicine and Health Sciences, Jan Kochanowski University, Kielce, Poland; Faculty of Medicine and Health Sciences, Jan Kochanowski University, Kielce, Poland.

    Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neurofibromatosis type 1.
    World J Gastroenterol 2018 Jan;24(4):537-542
    Department of Pathology, Korea University College of Medicine, Seoul 02841, South Korea.
    We report our experience with a synchronous case of gastrointestinal stromal tumor (GIST) and intraductal papillary neoplasm of the bile duct (IPNB) in an elderly woman with neurofibromatosis type 1 (NF-1). A 72-year-old woman presented with a 2-mo history of right upper abdominal pain unrelated to diet and indigestion. Fourteen years earlier, she had been diagnosed with NF-1, which manifested as café au lait spots and multiple nodules on the skin. Read More

    Monitoring of optic nerve function in Neurofibromatosis 2 children with optic nerve sheath meningiomas using multifocal visual evoked potentials.
    J Clin Neurosci 2018 Feb 2. Epub 2018 Feb 2.
    Save Sight Institute Discipline of Ophthalmology, The University of Sydney, Australia.
    Monitoring optic nerve sheath meningiomas (ONSM) in Neurofibromatosis type 2 (NF2) patients remains difficult. Other ocular manifestations of NF2 may obscure ophthalmic assessment of optic nerve function in these patients. Serial magnetic resonance imaging (MRI) used to assess the optic nerve is not without limitations, being expensive and often requiring general anaesthetic in children, with associated risks. Read More

    Uncovering Hereditary Tumor Syndromes: Emerging Role of Surgical Pathology.
    Semin Diagn Pathol 2018 Feb 1. Epub 2018 Feb 1.
    Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, University Hospital, Erlangen, Germany.
    With the increased use of modern next generation sequencing technologies in routine molecular pathology practice, the proportion of cancer cases with a definite or probable hereditary background seems to be steadily increasing. Currently, it is assumed that ≥10% of all malignancies develop in the setting of germline predisposition. Diagnosis and recognition of cancer predisposition syndromes relies not rarely on distinctive histopathological features that proved to be highly valuable and reproducible in uncovering those diseases that would otherwise have gone undetected by clinicians as being hereditary in nature. Read More

    Systematic review of high-level mobility training in people with a neurological impairment.
    Brain Inj 2018 2;32(4):403-415. Epub 2018 Feb 2.
    a Victorian Paediatric Rehabilitation Service , Monash Children's Hospital , Melbourne , Australia.
    Aim: The objective of this paper was to systematically review the efficacy of interventions targeting high-level mobility skills in people with a neurological impairment.

    Methods: A comprehensive electronic database search was conducted. Study designs were graded using the American Academy of Cerebral Palsy and Developmental Medicine (AACPDM) system and methodological quality was described using the Physiotherapy Evidence Database (PEDro) scale. Read More

    Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.
    Am J Med Genet A 2018 Mar 1;176(3):515-550. Epub 2018 Feb 1.
    National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
    The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C. Read More

    Liponeurofibroma: Clinicopathological features and histogenesis.
    J Dermatol 2018 Jan 31. Epub 2018 Jan 31.
    Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea.
    A neurofibroma is a common cutaneous benign tumor of neural origin. Various histological variants have been reported. Recently, sporadic reports of fatty variants have been reported but their clinicopathological features have not been well studied. Read More

    Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations.
    BMJ Case Rep 2018 Jan 31;2018. Epub 2018 Jan 31.
    Department of Medicine, Pulmonary Critical Care and Sleep Medicine, University of California Los Angeles David Geffen School of Medicine, Los Angeles, California, USA.
    Neurofibromatosis type 1 (NF1)-related lung disease is a rare but increasingly recognised, high morbidity associated feature of the condition. We present a 48-year-old male patient with NF1, who was initially admitted for a subarachnoid haemorrhage requiring aneurysmal coil embolisation. During his recovery, he developed a left-sided pneumothorax requiring chest tube placement followed by concerns for re-expansion pulmonary oedema requiring intubation. Read More

    Pain correlates with germline mutation in schwannomatosis.
    Medicine (Baltimore) 2018 Feb;97(5):e9717
    Department of Neurology.
    Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain subscale.We identified a germline mutation in LZTR1 in 5 patients (13. Read More

    Children's at Home: Pilot Study Assessing Dedicated Social Media for Parents of Adolescents with Neurofibromatosis Type 1.
    J Genet Couns 2018 Jan 30. Epub 2018 Jan 30.
    Division of Adolescent/Young Adult Medicine, Center on Media and Child Health, Boston Children's Hospital, Boston, MA, USA.
    The aim of this pilot study was to evaluate Children's at Home (C@H), a dedicated social media website for parents of adolescents with neurofibromatosis type 1 (NF1). The interventional study included two phases: (1) creating video intervention/prevention assessment (VIA) visual narratives about having an adolescent with NF1 and (2) interacting on C@H, a secure, medically moderated social media website. C@H was evaluated qualitatively at three time points. Read More

    Endovascular management of renal artery aneurysms induced by neurofibromatosis type 1: A case report.
    Medicine (Baltimore) 2017 Nov;96(47):e8858
    Department of Interventional Radiology and Vascular Surgery, Peking University First Hospital, Peking University, Beijing, China.
    Rationale: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by cafe au lait macules and neurofibromatosis. Renal artery aneurysms are relatively uncommon. Endovascular techniques are effective in treating renal aneurysms but successful cases are rarely reported in NF-1 adults. Read More

    Quantitative microstructural cerebral changes in neurofibromatosis type 1.
    Brain Dev 2018 Jan 17. Epub 2018 Jan 17.
    Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
    Objectives: To evaluate microstructural cerebral changes in children with neurofibromatosis type 1 (NF1) based on Trelaxation time measurements at 3Tesla.

    Methods: From our dataset of pediatric MRI examinations at 3T 19 pediatric NF1 patients (1.9-14. Read More

    Intravenous Remifentanil Analgaesia for an Obstetric Patient with Type I Neurofibromatosis and a Factor V Leiden Mutation.
    Sultan Qaboos Univ Med J 2017 Nov 10;17(4):e468-e471. Epub 2018 Jan 10.
    Department of Anaesthesiology, Resuscitation & Pain Therapeutics, Hospital General Universitario de Ciudad Real, Ciudad Real, Spain.
    Type I neurofibromatosis is characterised by altered skin pigmentation and the growth of benign tumours, particularly along the peripheral nerves and central nervous system. We report a 36-year-oldwoman in labour who was admitted to the obstetric suite of the Hospital Sant Joan de Déu, Barcelona, Spain, in 2007 with hypothyroidism, type I neurofibromatosis and a factor V Leiden mutation. Due to a lack of cranial and spinal imaging data, an epidural was not indicated; instead, continuous intravenous remifentanil analgaesia was administered. Read More

    High-concentration topical capsaicin in the management of refractory neuropathic pain in patients with Neurofibromatosis type 1: a case series.
    Curr Med Res Opin 2018 Jan 25:1-12. Epub 2018 Jan 25.
    a Pharmacy department , Henri Mondor university hospital, AP-HP , 51 Avenue du Maréchal de Lattre de Tassigny , 94010 Créteil , France.
    Aim: The aim of this case series was to report the use of topical capsaicin (Qutenza®) in the management of refractory neuropathic pain (NP) in adult patients with type 1-Neurofibromatosis (NF1).

    Methods: Capsaicin has been suggested to NF1-patients suffering from refractory peripheral NP despite several years of analgesic treatments. The patch was applied for 60 minutes on the painful area, with tolerability control (blood pressure, intensity of pain and dermal reaction). Read More

    Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient.
    An Bras Dermatol 2017 Nov-Dec;92(6):870-873
    Department of Pediatrics at Hospital Federal de Bonsucesso (HFB) - Rio de Janeiro (RJ), Brazil.
    Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with important ischemic cerebrovascular events. Despite the rarity of this association in childhood, children diagnosed with neurofibromatosis type 1 and focal neurologic symptoms should be investigated for moyamoya syndrome. Read More

    Awake craniotomy for assisting placement of auditory brainstem implant in NF2 patients.
    Acta Otolaryngol 2018 Jan 23:1-6. Epub 2018 Jan 23.
    a Department of Neurosurgery , Beijing Tiantan Hospital, Capital Medical University , Beijing , People's Republic of China.
    Objectives: Auditory brainstem implants (ABIs) may be the only opportunity for patients with NF2 to regain some sense of hearing sensation. However, only a very small number of individuals achieved open-set speech understanding and high sentence scores. Suboptimal placement of the ABI electrode array over the cochlear nucleus may be one of main factors for poor auditory performance. Read More

    A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I.
    CEN Case Rep 2018 Jan 22. Epub 2018 Jan 22.
    Sanko Clinic, Fukuoka, Japan.
    Lipoprotein glomerulopathy (LPG) is a rare inherited disease characterized by histopathological features of lipoprotein thrombi in dilated glomerular capillaries and type III like hyperlipoproteinemia with heterozygous mutation of the apolipoprotein (apo) E gene. We herein present the case of a 50-year-old woman with LPG complicated by neurofibromatosis type 1 (NF1). To the best of our knowledge, this is the first report of a case of LPG complicated by NF1. Read More

    Neurofibromin 1 Impairs Natural Killer T-Cell-Dependent Antitumor Immunity against a T-Cell Lymphoma.
    Front Immunol 2017 5;8:1901. Epub 2018 Jan 5.
    Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis, IN, United States.
    Neurofibromin 1 (NF1) is a tumor suppressor gene encoding a Ras GTPase that negatively regulates Ras signaling pathways. Mutations in NF1 are linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. In terms of antitumor immunity, CD1d-dependent natural killer T (NKT) cells play an important role in the innate antitumor immune response. Read More

    Involvement of Aryl hydrocarbon receptor in myelination and in human nerve sheath tumorigenesis.
    Proc Natl Acad Sci U S A 2018 Feb 19;115(6):E1319-E1328. Epub 2018 Jan 19.
    University Paris Descartes, INSERM UMR 1124, Faculty of Basic and Biomedical Sciences, 75270 Paris Cedex 6, France;
    Aryl hydrocarbon receptor (AHR) is a ligand-activated transcription factor involved in xenobiotic metabolism. Plexiform neurofibromas (PNFs) can transform into malignant peripheral nerve sheath tumors (MPNSTs) that are resistant to existing therapies. These tumors are primarily composed of Schwann cells. Read More

    Prognostic factors for progression in atypical meningioma.
    J Neurosurg 2018 Jan 19:1-9. Epub 2018 Jan 19.
    Neuropathology, Cedars Cancer Centre, McGill University Health Centre, Montreal, Quebec, Canada.
    OBJECTIVE The optimal adjuvant management for atypical meningiomas remains controversial. The aim of this study was to review long-term outcomes to identify potential prognostic factors for disease progression. METHODS From August 1992 to August 2013, 70 patients with atypical meningioma were treated at the authors' institution. Read More

    Sphenoid Dysplasia: A Rare Presentation of Infantile Myofibroma.
    Ophthal Plast Reconstr Surg 2018 Jan 17. Epub 2018 Jan 17.
    Department of Ophthalmology and Visual Sciences, University of Louisville, and Department of Pathology, Norton Children's Hospital, Louisville, Kentucky, U.S.A.
    The authors report a case of isolated congenital orbital myofibroma causing sphenoid dysplasia and presenting as global restriction of extraocular motility and ptosis in a neonate. Sphenoid wing dysplasia is most commonly associated neurofibromatosis 1 but this patient had no evidence of neurofibromatosis on clinical examination and genetic testing. Congenital orbital myofibroma can have secondary effects on bone and likely the lesion was present early in development leading to aplasia of the sphenoid bone. Read More

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