16,659 results match your criteria Neurofibromatosis Type 2


Neurofibromatosis and psychosis: coincidence or co-occurrence?

Aust N Z J Psychiatry 2018 Dec 5:4867418818360. Epub 2018 Dec 5.

2 Department of Psychiatry, Natchaug Hospital, Mansfield Center, CT, USA.

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December 2018

Comparison of hybrid 18F-fluorodeoxyglucose positron emission tomography/magnetic resonance imaging and positron emission tomography/computed tomography for evaluation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1.

World J Nucl Med 2018 Oct-Dec;17(4):241-248

Department of Radiology, NYU School of Medicine, New York, NY 10016, USA.

Rapidly enlarging, painful plexiform neurofibromas (PN) in neurofibromatosis type 1 (NF1) patients are at higher risk for harboring a malignant peripheral nerve sheath tumor (MPNST). Fludeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) has been used to support more invasive diagnostic and therapeutic interventions. However, PET/CT imparts an untoward radiation hazard to this population with tumor suppressor gene impairment. Read More

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December 2018
2 Reads

JMML genomics and decisions.

Hematology Am Soc Hematol Educ Program 2018 Nov;2018(1):307-312

Department of Pediatrics and Adolescent Medicine, University Children's Hospital, University of Freiburg, Freiburg, Germany.

Juvenile myelomonocytic leukemia (JMML) is a unique clonal hematopoietic disorder of early childhood characterized by hyperactivation of the RAS signal transduction pathway. Approximately 90% of patients harbor molecular alteration in 1 of 5 genes (), which define genetically and clinically distinct JMML subtypes. Three subtypes, , and -mutated JMML, are characterized by heterozygous somatic gain-of-function mutations in non syndromic children, while two subtypes, JMML in neurofibromatosis type 1 and in JMML in children with CBL syndrome, are characterized by germ line RAS disease and acquired biallelic inactivation of the respective tumor suppressor genes in hematopoietic cells. Read More

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November 2018

The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features.

Top Magn Reson Imaging 2018 Dec;27(6):433-462

Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.

Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. Read More

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December 2018
5 Reads

Arterial Stiffness in a Toddler with Neurofibromatosis Type 1 and Refractory Hypertension.

Case Rep Pediatr 2018 31;2018:5957987. Epub 2018 Oct 31.

1st Department of Pediatrics, Aristotle University Thessaloniki, Hippokration Hospital, Thessaloniki, Greece.

Arterial hypertension is a common finding in patients with neurofibromatosis (NF) type 1. Renovascular hypertension due to renal artery stenosis or midaortic syndrome could be the underlying cause. We report the case of a 4-year-old girl with NF type 1 and midaortic syndrome whose changes in blood pressure and pulse wave velocity suggested the evolution of vasculopathy, diagnosis of renovascular hypertension, and provided insights of response to treatment. Read More

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October 2018

Bilateral Iris Mammillations in Amblyopic Eyes without Oculodermal Melanocytosis or Neurofibromatosis.

Case Rep Ophthalmol Med 2018 29;2018:2534042. Epub 2018 Oct 29.

Department of Ophthalmology, Teikyo University School of Medicine, Tokyo 173-8605, Japan.

Purpose: Iris mammillations are related to oculodermal melanosis and iris nevi. We report a rare case of bilateral simple iris mammillations without ocular melanosis or systemic neuronal disorders.

Case Report: A healthy 10-year-old Japanese girl was found incidentally to have bilateral iris mammillations while being treated for amblyopia. Read More

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October 2018

A rare case of intracranial malignant triton tumor arising in the middle cranial fossa: a case report and review of the literature.

Folia Neuropathol 2018 ;56(3):229-234

We describe a rare case of intracranial malignant triton tumor (MTT) arising in the middle cranial fossa in a 74-year-old female patient who had previously been exposed to radiation in the Chernobyl disaster. The patient underwent a surgical subtotal removal of the mass and radiation therapy, but the progression-free survival was only 2.5 months and death occurred four months after the onset of symptoms. Read More

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January 2018

Optic nerve sheath meningiomas: prevalence, impact, and management strategies.

Eye Brain 2018 24;10:85-99. Epub 2018 Oct 24.

Sydney Medical School, Discipline of Clinical Ophthalmology and Eye Health, University of Sydney, Sydney, NSW, Australia,

Optic nerve sheath meningiomas are rare benign neoplasms of the meninges surrounding the optic nerve. They are a significant cause of morbidity. While the mortality rate is practically zero, these tumors can blind or disfigure patients. Read More

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October 2018

Differentiation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1 using diffusion-weighted magnetic resonance imaging.

Neuro Oncol 2018 Nov 28. Epub 2018 Nov 28.

Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Martinistraße, Hamburg, Germany.

Background: To determine the value of diffusion-weighted (DW) magnetic resonance imaging (MRI) for characterization of benign and malignant peripheral nerve sheath tumors (PNSTs) in patients with neurofibromatosis type 1 (NF1).

Methods: Twenty-six patients with NF1 and suspicion of malignant transformation of PNSTs were prospectively enrolled, and underwent DW MRI at 3T. For a set of benign (n=55) and malignant (n=12) PNSTs, functional MRI parameters were derived from both biexponential intravoxel incoherent motion (diffusion coefficient D and perfusion fraction f) and monoexponential data analysis (apparent diffusion coefficients (ADCs)). Read More

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November 2018

Pediatric intramedullary schwannoma with syringomyelia: a case report and literature review.

BMC Pediatr 2018 Nov 28;18(1):374. Epub 2018 Nov 28.

Department of Neurosurgery, Beijing Jishuitan Hospital, NO31, Xinjiekou East Street, Xicheng District, Beijing, 100035, China.

Background: Intramedullary schwannomas without neurofibromatosis are exceedingly rare. They are rarer in children with only 8 cases reported so far. The association of intramedullary schwannomas with syringomyelia is also rare. Read More

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November 2018

C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics.

Authors:

J Neurosurg Spine 2018 Oct 1:1-7. Epub 2018 Oct 1.

OBJECTIVEC2 nerve root neurofibromas have been reported frequently in patients with neurofibromatosis type 1 (NF1), although their genetic and imaging characteristics are unexplored. The aim of this study was to characterize genetic and spinal imaging findings in a large cohort of NF1 patients with C2 neurofibromas.METHODSThe authors performed a review of national NF1 referrals between 2009 and 2016. Read More

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October 2018

Appendiceal neurofibroma with low-grade appendiceal mucinous neoplasm in neurofibromatosis type 1 patient: A case report.

Int J Surg Case Rep 2018 Nov 13;53:377-380. Epub 2018 Nov 13.

Department of Gastroenterological Surgery, Hiroshima City Asa Citizens Hospital, Japan.

Introduction: Neurofibromas are a characteristic of the autosomal dominant disorder Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease. Appendiceal neurofibromas are extremely rare, and low-grade appendiceal mucinous neoplasms (LAMNs) have not previously been reported in NF1.

Presentation Of Case: A 62-year-old man with NF1 was scheduled for elective surgical treatment of an asymptomatic, enlarged and diffusely thickened appendix that remained after curative antimicrobial treatment of acute appendicitis. Read More

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November 2018
3 Reads

NF1 heterozygosity fosters de novo tumorigenesis but impairs malignant transformation.

Nat Commun 2018 Nov 27;9(1):5014. Epub 2018 Nov 27.

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

Neurofibromatosis type 1 (NF1) is an autosomal genetic disorder. Patients with NF1 are associated with mono-allelic loss of the tumor suppressor gene NF1 in their germline, which predisposes them to develop a wide array of benign lesions. Intriguingly, recent sequencing efforts revealed that the NF1 gene is frequently mutated in multiple malignant tumors not typically associated with NF1 patients, suggesting that NF1 heterozygosity is refractory to at least some cancer types. Read More

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November 2018
1 Read

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.

Hum Genet 2018 Nov 26. Epub 2018 Nov 26.

Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

Different types of large NF1 deletion are distinguishable by breakpoint location and potentially also by the frequency of mosaicism with normal cells lacking the deletion. However, low-grade mosaicism with fewer than 10% normal cells has not yet been excluded for all NF1 deletion types since it is impossible to assess by the standard techniques used to identify such deletions, including MLPA and array analysis. Here, we used ultra-deep amplicon sequencing to investigate the presence of normal cells in the blood of 20 patients with type-1 NF1 deletions lacking mosaicism according to MLPA. Read More

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November 2018

Usp9X Regulates Cell Death in Malignant Peripheral Nerve Sheath Tumors.

Sci Rep 2018 Nov 26;8(1):17390. Epub 2018 Nov 26.

Department of Pathology & Cell Biology, Columbia University Vagelos College of Physicians and Surgeons, New York, USA.

Malignant peripheral nerve sheath tumors (MPNSTs) are the leading cause of death in neurofibromatosis type 1 (NF1) patients. Current treatment modalities have been largely unsuccessful in improving MPNST patient survival, making the identification of new therapeutic targets urgent. In this study, we found that interference with Usp9X, a deubiquitinating enzyme which is overexpressed in nervous system tumors, or Mcl-1, an anti-apoptotic member of the Bcl-2 family whose degradation is regulated by Usp9X, causes rapid death in human MPNST cell lines. Read More

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November 2018
5 Reads

Conditional Inactivation of and in Schwann Cells Results in Abnormal Neuromuscular Junction Maturation.

G3 (Bethesda) 2018 Nov 26. Epub 2018 Nov 26.

The Hong Kong Polytechnic University

The neuromuscular junction (NMJ) consists of three components, namely presynaptic motor neurons, postsynaptic muscle fibers and perisynaptic Schwann cells (PSCs). The role of Schwann cells (SCs) in regulating NMJ structural and functional development remains unclear. In this study, mice with conditional inactivation of () and (), specifically in SCs, resulted in delayed NMJ maturation that led to delayed muscle growth, recapitulating the muscular dystrophy condition observed in human neurofibromatosis type I syndrome (NF1) patients. Read More

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November 2018

Tonic ATP-mediated growth suppression in peripheral nerve glia requires arrestin-PP2 and is evaded in NF1.

Acta Neuropathol Commun 2018 Nov 23;6(1):127. Epub 2018 Nov 23.

Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital, 3333 Burnet Ave., ML 7017, Cincinnati, OH, 45229, USA.

Normal Schwann cells (SCs) are quiescent in adult nerves, when ATP is released from the nerve in an activity dependent manner. We find that suppressing nerve activity in adult nerves causes SC to enter the cell cycle. In vitro, ATP activates the SC G-protein coupled receptor (GPCR) P2Y2. Read More

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November 2018
1 Read

Imaging Findings in Syndromes with Temporal Bone Abnormalities.

Neuroimaging Clin N Am 2019 Feb 29;29(1):117-128. Epub 2018 Oct 29.

Department of Radiology, University of Chicago, Pritzker School of Medicine, 5841 South Maryland Avenue, Chicago, IL 60637, USA. Electronic address:

There is a wide variety of congenital syndromes that can involve the temporal bone. Many of these have overlapping features due to common embryologic abnormalities, such as first and second branchial anomalies. Diagnostic imaging is often important in the workup of hearing deficits related to congenital syndromes. Read More

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February 2019
6 Reads

Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review.

Arch Plast Surg 2018 Nov 15;45(6):583-587. Epub 2018 Nov 15.

Department of Plastic and Reconstructive Surgery, Bucheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Kaposiform hemangioendothelioma (KHE) is a very rare, locally aggressive vascular neoplasm. It occurs mostly in children and is rarely observed in adults. It typically originates on the skin, later affecting the deep soft tissue of the extremities, head or neck, and retroperitoneum by infiltrative growth. Read More

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November 2018

Pain, skin sensations symptoms, and cognitive functioning predictors of health-related quality of life in pediatric patients with Neurofibromatosis Type 1.

Qual Life Res 2018 Nov 21. Epub 2018 Nov 21.

Children's Health Services Research, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.

Objectives: The aim was to investigate pain, skin sensations symptoms and patient self-reported, and parent proxy-reported cognitive functioning as predictors of generic health-related quality of life (HRQOL) in pediatric patients with Neurofibromatosis Type 1 (NF1) from the perspectives of patients and parents.

Methods: The Pain, Skin Itch Bother, Skin Sensations, and Cognitive Functioning Scales from the PedsQL™ Neurofibromatosis Type 1 Module and the PedsQL™ Generic Core Scales were completed in a multi-site national study by 323 patients and 335 parents. Patients were 5-25 years of age. Read More

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November 2018
1 Read

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome.

Int J Mol Sci 2018 Nov 20;19(11). Epub 2018 Nov 20.

Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.

Moyamoya angiopathy (MA) is a cerebrovascular disease determining a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and their proximal branches and the compensatory development of abnormal "moyamoya" vessels. MA occurs as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes) including several heritable conditions such as Down syndrome, neurofibromatosis type 1 and other genomic defects. Although the mechanism that links MA to these genetic syndromes is still unclear, it is believed that the involved genes may contribute to the disease susceptibility. Read More

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November 2018
2 Reads

Progression of hearing loss in neurofibromatosis type 2 according to genetic severity.

Laryngoscope 2018 Nov 19. Epub 2018 Nov 19.

Oxford NF2 Unit, Neurosciences, Oxford, United Kingdom.

Objectives/hypothesis: This study set out to describe the progression of hearing loss in patients with neurofibromatosis type 2 (NF2), treated in a quaternary multidisciplinary clinic. It also aimed to compare hearing loss across patients grouped according to a known genetic severity score to explore its utility for prognostication.

Study Design: Retrospective cohort study. Read More

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November 2018
6 Reads

Revision Surgery for Vestibular Schwannomas.

J Neurol Surg B Skull Base 2018 Dec 9;79(6):528-532. Epub 2018 Apr 9.

House Clinic, Los Angeles, California, United States.

 To describe clinical outcomes of patients undergoing revision surgery for vestibular schwannomas.  Retrospective case series.  Tertiary private neurotologic practice. Read More

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December 2018
2 Reads

A case of neurofibromatosis type 2 (NF2) with classic imaging and skin findings.

Med J Armed Forces India 2018 Oct 5;74(4):407-409. Epub 2017 Oct 5.

Classified Specialist (ENT), Command Hospital (Central Command), Lucknow, India.

Neurofibromatosis is a neurocutaneous, tumor predisposing, inheritable disorder characterized by tumors of the brain and spine and the presence of skin lesions. The most important tumors associated with neurofibromatosis are vestibular nerve schwannomas, with others being meningiomas and ependymomas. The cord is also affected by tumors, ependymoma being the commonest, besides meningiomas and schwannomas. Read More

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October 2018
7 Reads

Neurofibromatosis type 1 as a model system to study molecular mechanisms of autism spectrum disorder symptoms.

Prog Brain Res 2018 25;241:37-62. Epub 2018 Oct 25.

Department of Psychiatry, Institute of Psychiatric Research, IU School of Medicine, Indianapolis, IN, United States; Stark Neurosciences Research Institute, IU School of Medicine, Indianapolis, IN, United States; Department of Pharmacology & Toxicology, IU School of Medicine, Indianapolis, IN, United States; Indiana Clinical and Translational Institute, IU School of Medicine, Indianapolis, IN, United States.

Neurofibromatosis type 1 (NF1) is monogenic neurodevelopmental disorder caused by mutation of NF1 gene, which leads to increased susceptibility to various tumors formations. Additionally, majority of patients with NF1 are experience high incidence of cognitive deficits. Particularly, we review the growing number of reports demonstrated a higher incidence of autism spectrum disorder (ASD) in individuals with NF1. Read More

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October 2018
2 Reads

Measurement considerations in pediatric research on autism spectrum disorders.

Prog Brain Res 2018 1;241:193-220. Epub 2018 Nov 1.

Neuropsychology, Children's National Health System, Washington, DC, United States.

Studying Autism Spectrum Disorders (ASD) in genetic syndromes has gained interest in the scientific community as a way to elucidate mechanisms and symptom profiles to understand ASD more broadly. Appropriate and adequate measurement of constructs, symptomatology, and outcomes in clinical research is of vital importance in establishing the prevalence of such symptoms and measuring change in symptoms in the context of clinical trials. As such, we provide an overview of the prevalence of ASD, present current diagnostic guidelines, discuss important comorbidities to consider, describe current assessment strategies in assessing ASD, and discuss these within the context of a specific genetic condition to highlight how ASD can be best evaluated. Read More

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November 2018

Studying child development in genetic models of ASD.

Prog Brain Res 2018 1;241:159-192. Epub 2018 Nov 1.

Division of Neuroscience & Experimental Psychology, School of Biological Sciences, University of Manchester, Manchester, United Kingdom; Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Greater Manchester Mental Health NHS Trust, Manchester, United Kingdom. Electronic address:

This chapter approaches the early development in autism spectrum disorder (ASD) through comparative study of some key monogenic syndromic models of ASD in humans. Using this method, as well as referring to relevant work in idiopathic ASD, we address three complimentary areas: (i) patterns of ASD behavioral phenotype expression across genetic syndromes, as a way of addressing gene-phenotype correlations; (ii) longitudinal developmental trajectories toward autism in early childhood, as a way of addressing developmental specificity; and (iii) experimental intervention trials, for treatment and mechanism discovery. The comparative approach does not highlight striking phenotypic specificity, but early studies were often limited and more methodologically sophisticated recent studies may suggest subtle distinctions. Read More

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November 2018
1 Read

Gingival Neurofibroma With Teardrop-Shaped Defects of the Interdental Alveolar Bone: An Unusual Oral Manifestation of Neurofibromatosis Type 1.

J Craniofac Surg 2018 Nov 15. Epub 2018 Nov 15.

Department of Oral and Maxillofacial Surgery II, Osaka University Graduate School of Dentistry, Osaka, Japan.

Gingival enlargement, although frequently encountered in clinical settings, is rarely associated with systemic diseases or syndromes. Among the diverse pathological conditions of neurofibromatosis type 1 (NF-1), minor manifestations in the orofacial region are occasionally overlooked. Herein, the authors present an unusual case of gingival neurofibroma in a patient with NF-1 associated with characteristic osseous defects in the alveolus in the long-term course of 17 years from the first examination. Read More

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November 2018
3 Reads
0.676 Impact Factor

[Dermal Clues to Systemic Diseases].

Dtsch Med Wochenschr 2018 Nov 15;143(23):1690-1699. Epub 2018 Nov 15.

Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Read More

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November 2018
8 Reads

Coexistence of neurofibromatosis type 1 with multiple malignant neoplasia.

Neuro Endocrinol Lett 2018 Sep 4;39(3):149-155. Epub 2018 Sep 4.

Clinical Department of Endocrinology, Jagiellonian University in Krakow, Poland.

Neurofibromatosis type 1 (NF1, von Recklinghausen disease) is inherited in autosomal dominant way genetic disorder, with an incidence at birth 1:3000. It is one of the most common congenital disorders. It is characterized by café-au-lait spots, neurofibromas, and less common MPTST and gliomas of the optic nerve. Read More

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September 2018
3 Reads

Neuromuscular Ultrasound: Clinical Applications and Diagnostic Values.

Can J Neurol Sci 2018 Nov;45(6):605-619

2Department of Neurology and Clinical Neurophysiology,Donders Institute for Brain,Cognition and Behaviour,Radboud University Medical Center,Nijmegen,The Netherlands.

Advances in high-resolution ultrasound have provided clinicians with unique opportunities to study diseases of the peripheral nervous system. Ultrasound complements the clinical and electrophysiology exam by showing the degree of abnormalities in myopathies, as well as spontaneous muscle activities in motor neuron diseases and other disorders. In experienced hands, ultrasound is more sensitive than MRI in detecting peripheral nerve pathologies. Read More

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November 2018
1 Read

Whole-body magnetic resonance imaging (WB-MRI) in oncology: recommendations and key uses.

Radiol Med 2018 Nov 14. Epub 2018 Nov 14.

Department of Radiology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

The past decade has witnessed a growing role and increasing use of whole-body magnetic resonance imaging (WB-MRI). Driving these successes are developments in both hardware and software that have reduced overall examination times and significantly improved MR imaging quality. In addition, radiologists and clinicians have continued to find promising new applications of this innovative imaging technique that brings together morphologic and functional characterization of tissues. Read More

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November 2018
1 Read

Use of hyperbaric oxygen therapy in pediatric neuro-oncology: a single institutional experience.

J Neurooncol 2018 Nov 13. Epub 2018 Nov 13.

Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.

Introduction: Hyperbaric oxygen therapy (HBOT) has been utilized as adjunctive treatment of CNS tumors and for radiation necrosis (RN) with reported success. The safety and efficacy in pediatric patients is less understood.

Methods: Seven patients (ages 10-23 years, six females) were treated with HBOT (3-60 sessions) for either RN (n = 5) or tumor-associated edema (n = 2). Read More

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November 2018
3 Reads

Genetic Evaluation of Common Neurocutaneous Syndromes.

Pediatr Neurol 2018 Aug 10. Epub 2018 Aug 10.

Department of Pediatric Genetics, Dokuz Eylül University Medical School, Izmir, Turkey.

The neurocutaneous syndromes are a group of multisystem disorders that affect the skin and central nervous system. Neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis complex and Sturge-Weber syndrome are the four major neurocutaneous disorders that mainly present in childhood. In this review, we discuss the clinical findings and genetic diagnosis, related genes/pathways and genotype-phenotype correlations of these four neurocutaneous syndromes. Read More

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August 2018
4 Reads

Childhood Moyamoya: Looking Back to the Future.

Pediatr Neurol 2018 Oct 15. Epub 2018 Oct 15.

Department of Neurology, University of Washington, Seattle, Washington.

Moyamoya is a chronic, progressive steno-occlusive arteriopathy that typically affects the anterior circulation arteries of the circle of Willis. A network of deep thalamoperforating and lenticulostriate collaterals develop to by-pass the occlusion giving rise to the characteristic angiographic "puff of smoke" appearance. Moyamoya confers a lifelong risk of stroke and neurological demise, with peak age of presentation in childhood ranging between five and 10 years. Read More

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October 2018
2 Reads

Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1).

Calcif Tissue Int 2018 Nov 12. Epub 2018 Nov 12.

Unit of Endocrinology and Metabolic Diseases, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

In patients with neurofibromatosis type 1 (NF1), decreased bone mineral density (BMD) and low levels of 25-hydroxy vitamin D3 (25OHD) have been reported. Recently, the trabecular bone score (TBS) measurement has been proposed as index of bone microarchitecture and fracture risk. In 74 NF1 patients (48 females, 26 males, age 41 ± 12), we measured TBS and investigated clinical stage, lifestyle, vitamin D, serum bone turnover markers, vertebral and femoral BMD. Read More

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November 2018
1 Read

Conformal Radiation Therapy for Pediatric Patients with Low-Grade Glioma: Results from the Children's Oncology Group Phase II Study XXXX.

Int J Radiat Oncol Biol Phys 2018 Nov 9. Epub 2018 Nov 9.

Department of Radiation Oncology, St. Jude Children's Research Hospital, Memphis, TN. Electronic address:

Purpose: To determine the rate of marginal relapse, progression-free survival (PFS), and overall survival (OS) in patients with pediatric low-grade glioma (PLGG) treated with conformal radiation therapy (CRT) with a clinical target volume (CTV) margin of 5 mm in the Children's Oncology Group trial XXXX.

Methods And Materials: Children (age 3-21 years) with unresectable progressive, recurrent, or residual PLGG were eligible for this study. Patients younger than 10 years were required to have received at least 1 chemotherapy course. Read More

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November 2018
4 Reads

Intramedullary schwannoma of conus medullaris: rare site for a common tumor with review of literature.

Spinal Cord Ser Cases 2018 6;4:99. Epub 2018 Nov 6.

3Department of Radiology, Institute of Human Behaviour and Allied Sciences, Delhi, India.

Introduction: Schwannomas at an intramedullary location constitute only 0.3% of primary spinal tumors. Those in the conus are extremely rare, especially in the absence of neurofibromatosis, with only 12 cases reported in the literature so far, excluding the present case. Read More

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November 2018
1 Read

Somatic SMARCB1 Mutation in Sporadic Multiple Meningiomas: Case Report.

Front Neurol 2018 26;9:919. Epub 2018 Oct 26.

Department of Pathology and Laboratory Medicine, University of California-Irvine Medical Center, Orange, CA, United States.

Multiple intracranial meningiomas account for <10% of all meningiomas. Familial multiple meningiomas have been linked to germline mutations in two genes: (NF2) and (SMARCB1). Sporadic multiple meningiomas have been associated with somatic NF2 mutations and, to date, there has been no case related to somatic SMARCB1 mutations. Read More

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October 2018
6 Reads

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.

J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome caused by biallelic germline mutations in one of four mismatch-repair genes. Besides very high tumour risks, CMMRD phenotypes are often characterised by the presence of signs reminiscent of neurofibromatosis type 1 (NF1). Because NF1 signs may be present prior to tumour onset, CMMRD is a legitimate differential diagnosis in an otherwise healthy child suspected to have NF1/Legius syndrome without a detectable underlying / germline mutation. Read More

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November 2018
9 Reads

Patient Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders Measurement System to Evaluate Quality of Life for Children and Adolescents with Neurofibromatosis Type 1 Associated Plexiform Neurofibroma.

J Pediatr 2018 Nov 6. Epub 2018 Nov 6.

Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL; Division of Academic General, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL.

Objective: To assess the health-related quality of life of children with neurofibromatosis type 1-related plexiform neurofibromas (pNF) using a battery of patient-reported outcome measures selected based on a conceptual framework derived from input by patients, parents, and clinicians regarding the most important pNF symptoms and concerns.

Study Design: There were 140 children with pNF ages 8-17 years who completed the Patient-Reported Outcomes Measurement Information System (including domains anxiety, depressive symptom, psychosocial stress experiences, fatigue, pain interference, meaning and purpose, positive affect, peer relationships, physical function-mobility) and Quality of Life in Neurological Disorders measurement system (stigma) via an online platform. T-scores for each measure were compared with US population norms. Read More

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November 2018
3 Reads

Plexiform Schwannoma of the Tongue in a Pediatric Patient with Neurofibromatosis Type 2: A Case Report and Review of Literature.

Case Rep Pathol 2018 15;2018:9814591. Epub 2018 Oct 15.

Department of Pathology, The University of Texas Medical Branch, Galveston, TX 77555, USA.

Introduction: Plexiform schwannoma is a rare variant of schwannoma that accounts for only 5% of all schwannomas. Herein, we present a rare case of plexiform schwannoma of the tongue in a pediatric patient with neurofibromatosis type 2 (NF2).

Case Presentation: A 13-year-old female presented with a growing left-sided tongue mass. Read More

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October 2018
5 Reads

Cerebellar radiological abnormalities in children with neurofibromatosis type 1: part 1 - clinical and neuroimaging findings.

Cerebellum Ataxias 2018 1;5:14. Epub 2018 Nov 1.

5Section of Pediatric Radiology, Department of Radiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB Canada.

Background: Many children with neurofibromatosis type 1 (NF1) have focal abnormal signal intensities (FASI) on brain MRI, whose full clinical impact and natural history have not been studied systematically. Our aims are to describe the clinical and neuroradiological features in children with NF1 and cerebellar FASI, and report on the natural history of FASI that display atypical features such as enhancement and mass effect.

Method: A retrospective review of the hospital charts and brain MRIs was performed on children from Manitoba diagnosed between 1999 and 2008 with NF1, who also had cerebellar FASI on MRI. Read More

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November 2018
6 Reads

Cerebellar radiological abnormalities in children with neurofibromatosis type 1: part 2 - a neuroimaging natural history study with clinical correlations.

Cerebellum Ataxias 2018 30;5:13. Epub 2018 Oct 30.

5Section of Pediatric Radiology, Department of Radiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB Canada.

Background: Focal abnormal signal intensities (FASI) on brain MRI occur commonly in patients with neurofibromatosis type 1 (NF1). The natural history of cerebellar FASI and their correlation with clinical features have not been studied comprehensively. Our aims are to describe the natural history of cerebellar FASI on repeat MRI scans and correlate the findings with the clinical features in children with NF1 and cerebellar FASI. Read More

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October 2018
5 Reads

Case report of surgical treatment of scoliosis caused by neurofibroma located posterior mediastinum.

Int J Surg Case Rep 2018 Nov 1;53:168-170. Epub 2018 Nov 1.

Department of Thoracic Surgery, Kanazawa Medical University, Ishikawa, Japan.

Background: Neurofibromatosis type 1 (NF-1) is often associated with various orthopedic disorders, especially scoliosis. Spinal deformity in patients with NF-1 can be induced by localized neurofibromas.

Case Presentation: Scoliosis can be induced by a localized neurofibroma. Read More

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November 2018

Malignant peripheral nerve sheath tumor: Transformation in a patient with neurofibromatosis type 2.

Pediatr Blood Cancer 2018 Nov 8:e27520. Epub 2018 Nov 8.

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Malignant peripheral nerve sheath tumor (MPNST) is a rare soft-tissue sarcoma with an unfavorable prognosis and limited therapeutic options. MPNSTs can be sporadic, but are often associated with neurofibromatosis (NF) 1 and usually arise from preexisting neurofibromas. MPNSTs in patients with NF2 have been reported in only exceedingly rare cases, and the mechanisms underlying transformation into an MPNST have not been fully elucidated. Read More

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November 2018
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Construction of cloning-friendly minigenes for mammalian expression of full-length human NF1 isoforms.

Hum Mutat 2018 Nov 8. Epub 2018 Nov 8.

Leibniz Institute on Aging, Fritz Lipmann Institute (FLI), Jena, Germany.

The neurofibromatosis type 1 (NF1) tumor suppressor gene is one of the most frequently mutated genes in human tumors. Research on the NF1 proteins has been partially hindered by the difficulties in cloning and propagating the full-length coding cDNAs. We have now established a condition for propagating the natural open reading frames (ORFs) and have assembled the ORFs for human NF1 type 1 and 2 isoforms. Read More

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November 2018
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Rapid Redistribution of an Acute Traumatic Epidural Hematoma in a Patient with Invasive Skull Cancer.

Korean J Neurotrauma 2018 Oct 31;14(2):138-141. Epub 2018 Oct 31.

Department of Neurosurgery, Soonchunhyang University Bucheon Hospital, Bucheon, Korea.

The rapid spontaneous resolution of an acute epidural hematoma (EDH) has rarely been reported. A possible mechanism of spontaneous resolution is egress of the hematoma into the subgaleal space through a skull fracture. We report a case of rapid redistribution of an acute EDH in a 37-year-old man who had a malignant peripheral nerve sheath tumor of the skull and who slipped and fell when going to the bathroom. Read More

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October 2018
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