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    Heightened CXCR4 and CXCL12 expression in NF1-associated neurofibromas.
    Childs Nerv Syst 2018 Feb 17. Epub 2018 Feb 17.
    Department of Medical Biology and Genetics, Faculty of Medicine, TOBB University of Economics and Technology, Ankara, Turkey.
    Background: Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited disorder that affects both the skin and the nervous system. NF1 occurs due to the mutations in the NF1 gene. Neurofibromas are the most common Schwann cell-based tumors in NF1 patients, which are mainly categorized into dermal and plexiform neurofibromas. Read More

    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

    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

    '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

    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

    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

    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

    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

    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

    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

    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

    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

    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 Feb 21:1-5. Epub 2018 Feb 21.
    a Pharmacy Department , Henri Mondor University Hospital , Créteil , France.
    Aim: The aim of this case series was to report the use of 8% topical capsaicin patch (marketed under the trade name Qutenza)in the management of refractory neuropathic pain (NP) in adult patients with type 1 neurofibromatosis (NF1).

    Methods: Capsaicin has been suggested for 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

    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

    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

    Visual outcomes after chemotherapy for optic pathway glioma in children with and without neurofibromatosis type 1: results of the International Society of Paediatric Oncology (SIOP) Low-Grade Glioma 2004 trial UK cohort.
    Br J Ophthalmol 2018 Jan 17. Epub 2018 Jan 17.
    Leeds Teaching Hospitals NHS Trust, Leeds, UK.
    Aims: To report visual acuity (VA) outcomes following chemotherapy for optic pathway glioma (OPG) in children with or without neurofibromatosis type-1 (NF1) and to analyse associated risk factors.

    Methods: A prospective, multicentre, cohort study involving 155 children treated between September 2004 and December 2012. Initial and final VA was used for per-eye and per-subject analysis. Read More

    Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study.
    Orphanet J Rare Dis 2018 Jan 15;13(1). Epub 2018 Jan 15.
    Department of Dermatology, University of Turku, Turku, Finland.
    Background: Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g. Read More

    Psychosocial Features of Neurofibromatosis Type 1 in Children and Adolescents.
    J Child Neurol 2018 Mar 10;33(3):225-232. Epub 2018 Jan 10.
    2 Department of Pediatric, Centre Hospitalier Universitaire Sainte-Justine, Montreal, Quebec, Canada.
    Neurofibromatosis type 1 (NF1) is a common neurologic condition associated with a wide variety of developmental deficits that have an important impact on children and adolescents.

    Objective: This article aims to document the psychosocial features of NF1 and to report the interventions described to address the needs of pediatric patients with NF1.

    Methods: A literature review was conducted concerning the social life, mental health, and quality of life (QOL) of children and adolescents with NF1 as well as the psychosocial interventions addressed to this population. Read More

    Adult-Onset Hemorrhagic Quasi-Moyamoya Disease with Unilateral Steno-occlusive Lesion in a Patient with Neurofibromatosis Type 1.
    J Stroke Cerebrovasc Dis 2018 Jan 2. Epub 2018 Jan 2.
    Department of Neurological Surgery, National Hospital Organization Okayama Medical Center, Okayama, Japan.
    Background: Quasi-moyamoya disease is a condition that occurs in association with a specific underlying condition or disease such as atherosclerotic disease or neurofibromatosis type 1 (NF1). Pediatric cases are frequently reported, and an ischemic and bilateral presentation is more common than a hemorrhagic and unilateral presentation.

    Clinical Presentation: A 39-year-old woman previously diagnosed with NF1 presented to our department with nausea and left hemiparesis. Read More

    Rib head dislocation causing spinal canal stenosis in a child with neurofibromatosis, type 1.
    J Radiol Case Rep 2017 Aug 31;11(8):8-15. Epub 2017 Aug 31.
    Department of Radiology, University of South Florida College of Medicine, Tampa, FL, USA.
    A 10-year-old female with neurofibromatosis type 1 and severe dystrophic scoliosis presented with a two-month history of difficulty ambulating due to low back pain. The patient did not have any neurological symptoms. MRI of the thoracolumbar spine demonstrated subluxation of the right posterior tenth and eleventh ribs through their respective neural foramina, with mild mass effect on the thecal sac without abnormal cord signal or cord compression. Read More

    Optic Nerve Glioma in Two Sisters with Family History of Neurofibromatosis Type 1.
    J Neurol Surg A Cent Eur Neurosurg 2018 Jan 2. Epub 2018 Jan 2.
    Department of Neurosurgery, UMHAT "St. Ivan Rilski", Medical University, Sofia, Bulgaria.
    Optic nerve glioma (ONG) is associated in 10% of patients with neurofibromatosis (NF) type 1. To date no consensus has been reached regarding the therapeutic approach and prevention of visual impairment in these patients. Reports in the literature vary from a conservative approach (observation) to the use of single treatment modalities or multimodality protocols of surgical removal, radiotherapy, and/or chemotherapy. Read More

    Surgical resection of rare internal jugular vein aneurysm in neurofibromatosis type 1.
    World J Clin Cases 2017 Dec;5(12):419-422
    Department of Surgery, Detroit Medical Center Sinai Grace Hospital, Detroit, MI 48235, United States.
    Neurofibromatosis type 1 is a congenital condition affecting neurons and connective tissue integrity including vasculature. On extremely rare occasions these patients present with venous aneurysms affecting the internal jugular vein. If they become large enough there presents a risk of rupture, thrombosis, embolization or compression of adjacent structures. Read More

    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
    Am J Hum Genet 2018 Jan 28;102(1):69-87. Epub 2017 Dec 28.
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:
    Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p. Read More

    [Mucosal Schwann cells hamartoma: Review of a recently described entity].
    Rev Esp Patol 2018 Jan - Mar;51(1):49-54. Epub 2017 May 15.
    Laboratorio de Patología Romea, Murcia, España.
    Neural lesions of the colon may be masses (schwannomas and neurofibromas) or, more frequently, small polyps including perineuromas, ganglioneuromas and granular cell tumors. Some neural lesions are associated with congenital syndromes (neurofibromatosis-1, multiple endocrine neoplasia-2B). Recently, a new entity has been described named mucosal Schwann cell hamartoma, consisting of an intramucosal neural proliferation; to date, less than forty cases have been reported. Read More

    Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1.
    Graefes Arch Clin Exp Ophthalmol 2018 Feb 30;256(2):307-311. Epub 2017 Dec 30.
    Department of Sense Organs, 'Sapienza' University of Rome, Viale del Policlinico 155, 00161, Rome, Italy.
    Purpose: Only a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of this study was to evaluate the prevalence of ocular abnormalities in a large population of NF1 patients, focusing on the choroidal changes.

    Methods: This study was conducted on 160 consecutive patients with NF1 and 106 sex- and age-matched healthy subjects (control). Read More

    Nerve ultrasound in neurofibromatosis type 1: A follow-up study.
    Clin Neurophysiol 2017 Nov 26;129(2):354-359. Epub 2017 Nov 26.
    Department of Neurology, Elisabeth-Tweesteden Hospital, Tilburg, The Netherlands. Electronic address:
    Objective: To investigate development of sonographic abnormalities and applications of high-resolution ultrasonography (HRUS) in neurofibromatosis type 1 (NF1).

    Methods: Sixteen asymptomatic or minimally symptomatic NF1 patients underwent HRUS at inclusion and 1 year follow-up. Upper and lower extremity nerves were investigated. Read More

    Malignant peripheral nerve sheath tumor in children: A single-institute retrospective analysis.
    Pediatr Hematol Oncol 2017 Nov 29;34(8):468-477. Epub 2017 Dec 29.
    a Department of Pediatrics , Seoul National University College of Medicine , Seoul , Korea.
    Malignant peripheral nerve sheath tumors are rare tumors that originate from Schwann cells. Patients with neurofibromatosis type 1 are prone to develop these tumors. Due to their rarity and lack of established treatment, the prognosis of malignant peripheral nerve sheath tumors is poor. Read More

    A multidisciplinary approach to sphenoid wing dysplasia presenting with pulsatile proptosis in neurofibromatosis Type 1: A rare case report.
    Indian J Ophthalmol 2018 Jan;66(1):157-160
    Department of Radiology, A C S Medical College and Hospital, Chennai, Tamil Nadu, India.
    Neurofibromatosis (NF) with sphenoid wing dysplasia is a rare clinical entity. Herewith, we present a case of NF with sphenoid wing dysplasia which presented with pulsatile progressive proptosis. Other ocular symptoms or visual disturbances were absent. Read More

    Radiation Therapy for Optic Pathway and Hypothalamic Low-Grade Gliomas in Children.
    Int J Radiat Oncol Biol Phys 2017 Nov 23;99(3):642-651. Epub 2017 Jul 23.
    Department of Radiation Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee. Electronic address:
    Purpose: The long-term survival of pediatric patients with optic pathway or hypothalamic low-grade glioma (LGG) who receive radiation therapy (RT) has not been previously assessed.

    Methods And Materials: A retrospective study was performed of all patients with optic-hypothalamic pediatric LGG treated with RT at a single institution. Eligible patients were aged ≤21 years at the time of RT and had localized LGG diagnosed by neuroimaging or histology. Read More

    Endovascular Treatment for a Ruptured Lumbar Artery Aneurysm in a Patient with von Recklinghausen Disease.
    EJVES Short Rep 2018 6;38:1-3. Epub 2017 Dec 6.
    Department of Cardiovascular Surgery, Hyogo Brain and Heart Centre, Himeji, Japan.
    Introduction: Vasculopathy, such as an aneurysm, stenosis, rupture, or arteriovenous fistula, in patients with neurofibromatosis type I (NF-1; von Recklinghausen disease) is well recognised. However, there has been no report regarding treatment for a ruptured lumbar artery aneurysm associated with NF-1. We present the first report of successful endovascular treatment by coil embolisation for a ruptured lumbar artery aneurysm in a patient with NF-I. Read More

    PedsQL Neurofibromatosis Type 1 Module for children, adolescents and young adults: feasibility, reliability, and validity.
    J Neurooncol 2017 Dec 22. Epub 2017 Dec 22.
    Children's Health Services Research, Department of Pediatrics, Indiana University School of Medicine, 410 W. 10th St. HITS Suite 2000, Indianapolis, IN, 46202, USA.
    The objective of the present study was to report on the measurement properties of the Pediatric Quality of Life Inventory (PedsQL) Neurofibromatosis Type 1 Module for pediatric patients ages 5-25 from the perspectives of patients and parents. The 104-item PedsQL NF1 Module and 23-item PedsQL Generic Core Scales were completed in a multi-site national study by 323 patients and 335 parents (343 families). Patients were diagnosed with NF1 using the National Institutes of Health diagnostic criteria. Read More

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