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Neurofibromatosis + review

E Matyja, W Grajkowska, K Stępień, E Naganska
Pilocytic astrocytomas (PAs) are the most frequent primary astroglial tumours affecting children and adolescents. They occur sporadically or in association with a genetically determined syndrome - neurofibromatosis type 1. Classic PA usually manifests as a well-circumscribed, often cystic, slowly growing tumour, which corresponds to WHO grade I. The majority of pilocytic tumours arise along the neuraxis, predominantly in the cerebellum. They are associated with favourable long-term outcome or spontaneous regression, even after incomplete resection...
2016: Folia Neuropathologica
Daniel S Roberts, Steve Otto, Brian Chen, Kevin A Peng, Marc S Schwartz, Derald E Brackmann, John W House
OBJECTIVE: To evaluate whether an auditory brainstem implant (ABI) can impact levels of tinnitus in neurofibromatosis type-2 (NF2) patients who have undergone translabyrinthine craniotomy for vestibular schwannoma (VS) removal and to evaluate the burden of tinnitus in these patients. STUDY DESIGN: A retrospective case series and patient survey. SETTING: Tertiary neurotologic referral center. PATIENTS: NF2 patients who underwent translabyrinthine removal of VS and ABI placement between 1994 and 2015...
October 12, 2016: Otology & Neurotology
Emma Hitchcock, William T Gibson
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family...
October 14, 2016: Journal of Genetic Counseling
Shane C Quinonez, Thomas D Gelehrter, Wendy R Uhlmann
Small supernumerary marker chromosomes (sSMC) are abnormal chromosomes that cannot be characterized by standard banding cytogenetic techniques. A minority of sSMC contain a neocentromere, which is an ectopic centromere lacking the characteristic alpha-satellite DNA. The phenotypic manifestations of sSMC and neocentromeric sSMC are variable and range from severe intellectual disability and multiple congenital anomalies to a normal phenotype. Here we report a patient with a diagnosis of Marfan syndrome and infertility found to have an abnormal karyotype consisting of a chromosome 15 deletion and a ring-type sSMC likely stabilized by a neocentromere derived via a mechanism initially described by Barbara McClintock in 1938...
October 14, 2016: American Journal of Medical Genetics. Part A
Matthew L Carlson, Nicholas L Deep, Neil S Patel, Larry B Lundy, Nicole M Tombers, Christine M Lohse, Michael J Link, Colin L Driscoll
OBJECTIVE: To elucidate the long-term clinical behavior, treatment, and outcomes of sporadic facial nerve schwannoma (FNS) in a large cohort of patients managed in the post-magnetic resonance imaging era. PATIENTS AND METHODS: Retrospective review at a single tertiary health care system (January 1, 1990, through December 31, 2015), evaluating 80 consecutive patients with sporadic FNS. RESULTS: Ninety-eight patients with FNS were identified; 10 with incomplete data and 8 with neurofibromatosis type 2 were excluded...
October 5, 2016: Mayo Clinic Proceedings
Satoru Kudose, Michael Kyriakos, Michael Magdi Awad
: Plexiform schwannoma (PS) is an uncommon variant of schwannoma characterized by a multinodular (plexiform) growth pattern. It comprises up to 5 % of all schwannomas. The association between PS and neurofibromatosis type 1 or type 2 (NF1/NF2) is only rarely reported. Most cases of PS occur in the skin and subcutaneous soft tissue, with only a few reports of digestive tract involvement. We describe an 18-year-old male with NF2 who had bilateral vestibular schwannomas and multiple cutaneous PSs, and a 3-year history of abdominal pain...
September 30, 2016: Clinical Journal of Gastroenterology
Jia Zhang, Ming Li, Zhirong Yao
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone...
September 22, 2016: Molecular Medicine Reports
Atsuhito Uneda, Kenta Suzuki, Shuichi Okubo, Koji Hirashita, Masatoshi Yunoki, Kimihiro Yoshino
BACKGROUND: Extracranial vertebral artery aneurysm related to neurofibromatosis type 1 (NF1) is rare. Aneurysmal rupture typically induces such symptoms as cervical hematoma, hemothorax, and hypotension. Here we report a case of ruptured extracranial vertebral artery aneurysm in a patient with NF1 who, rather than cervical hematoma, hemothorax, or hypotension, developed a vertebral arteriovenous fistula (AVF) after aneurysm rupture. CASE DESCRIPTION: A 35-year-old woman with a family history of NF1 presented with sudden-onset right neck and shoulder pain...
September 16, 2016: World Neurosurgery
Aldo Vagge, Leonard B Nelson, Paolo Capris, Carlo Enrico Traverso
Greater understanding of choroidal freckling in patients affected by neurofibromatosis type 1 (NF1) has changed the previous belief that choroidal lesions are unusual in eyes with this disease. In fact, the high frequency of freckling suggests that the choroid is a structure commonly affected in patients with NF1. A review of patients aged 16 years or younger was performed. Recent studies using near-infrared reflectance imaging have shown that choroidal freckling frequently occurred in pediatric patients. As a result of these findings, some authors have suggested that choroidal freckling should be considered as a new diagnostic criterion for NF1...
September 1, 2016: Journal of Pediatric Ophthalmology and Strabismus
Behnaz Rouhani, Aparna Ramasubramanian
Pediatric genetic ocular tumors include malignancies like retinoblastoma and phakomatosis like neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and nevoid basal cell carcinoma syndrome. It is important to screen for ocular tumors both for visual prognosis and also for systemic implications. The phakomatosis comprise of multitude of benign tumors that are aysmptomatic but their detection can aid in the diagnosis of the syndrome. Retinoblastoma is the most common malignant intraocular tumor in childhood and with current treatment modalities, the survival is more than 95%...
December 2014: Journal of Pediatric Genetics
Philip R Cohen
BackgroundSegmental neurofibromatosis, referred to as mosaic neurofibromatosis 1, patients present with neurofibromas or café au lait macules or both in a unilateral segment of the body.PurposeA woman with segmental neurofibromatosis and triple cancer (renal cell carcinoma, mixed thyroid carcinoma, and lentigo maligna) is described and cancers observed in patients with segmental neurofibromatosis are reviewed.MethodsPubMed was used to search the following terms, separately and in combination: cancer, malignancy, mosaic, neoplasm, neurofibroma, neurofibromatosis, segment, segmental, tumor...
2016: Dermatology Online Journal
Jesse Lee Kresak, Meggen Walsh
The neurofibromatoses are a heterogeneous group of hereditary cancer syndromes that lead to tumors of the central and peripheral nervous systems, as well as other organ systems. By far the most common form is neurofibromatosis 1 (96%), followed by neurofibromatosis 2 (3%), and a more recently recognized, lesser known form, schwannomatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations are discussed in this review article.
June 2016: Journal of Pediatric Genetics
Humain Baharvahdat, Babak Ganjeifar, Nema Mohamadian Roshan, Aslan Baradaran
Spinal Intradural primary malignant peripheral nerve sheath tumors (MPNST) are rare in patients without neurofibromatosis. Here we represent a 3- year-old girl of primary intradural spinal malignant peripheral nerve sheath tumor. The tumor was removed partially and MPNST was diagnosed in the histopathological exam. Her condition deteriorated due to acute hydrocephalus in the following days. In this article we discuss the clinical presentation, imaging, treatment, and prognosis of our patient and the other 22 patients of primary intradural MPNST, found in the literature...
March 4, 2016: Turkish Neurosurgery
Luxin Yin, Zhenyu Ma, Chunde Li, Shiqi Luo
AIM: We investigated the clinical presentation and management issues of unilateral vestibular schwannomas in childhood without evidence of neurofibromatosis. MATERIAL AND METHODS: Ten pediatric patients with unilateral vestibular schwannomas and no evidence of neurofibromatosis were treated by the senior author at Tiantan Hospital from January 1994 to December 2014. The clinical manifestations, neuroimaging findings, treatment methods, and therapeutic results were retrospectively reviewed...
December 28, 2015: Turkish Neurosurgery
Nurhan Torun, Yosef Laviv, Kianush Karimian Jazi, Anand Mahadevan, Rafeeque A Bhadelia, Anderson Matthew, Mitchell Strominger, Ekkehard M Kasper
Schwannomas of cranial nerves in the absence of systemic neurofibromatosis are relatively rare. Among these, schwannomas of the trochlear nerve are even less common. They can be found incidentally or when they cause diplopia or other significant neurological deficits. Treatment options include observation only, neuro-ophthalmological intervention, and/or neurosurgical management via resection or sterotactic radiosurgery (SRS). In recent years, the latter has become an attractive therapeutic tool for a number of benign skull base neoplasm including a small number of reports on its successful use for trochlear Schwannomas...
September 1, 2016: Neurosurgical Review
Florian Mainberger, Susanne Langer, Volker Mall, Nikolai H Jung
Synaptic plasticity in the form of long-term potentiation (LTP) and long-term depression (LTD) is considered to be the neurophysiological correlate of learning and memory. Impairments are discussed to be one of the underlying pathophysiological mechanisms of developmental disorders. In so-called RASopathies [e.g., neurofibromatosis 1 (NF1)], neurocognitive impairments are frequent and are affected by components of the RAS pathway which lead to impairments in synaptic plasticity. Transcranial magnetic stimulation (TMS) provides a non-invasive method to investigate synaptic plasticity in humans...
October 2016: Journal of Neural Transmission
Erynne A Faucett, Brandon T Larsen, Rihan Khan, Alexander G Chiu, Eugene H Chang
Sinonasal schwannomas with intracranial extension are exceedingly rare, with only 7 cases reported in the literature. Schwannomas can be isolated or multiple and are commonly associated with familial disorders such as neurofibromatosis 2 (NF 2) or familial schwannomatosis or in sporadic cases seen in sporadic schwannomatosis. Nearly all people with NF2 older than 30 years of age will have the hallmark of bilateral vestibular schwannomas (VS). This case highlights a reported case of an adult with separate primary intracranial tumors...
November 2016: Annals of Otology, Rhinology, and Laryngology
Aaron D Skolnik, Laurie A Loevner, Deepak M Sampathu, Jason G Newman, John Y Lee, Linda J Bagley, Kim O Learned
Schwannomas are benign nerve sheath tumors that may arise along the complex course of the cranial nerves (CNs), anywhere in the head and neck. Sound knowledge of the CN anatomy and imaging features of schwannomas is paramount for making the correct diagnosis. In this article, we review approaches to diagnosing CN schwannomas by describing their imaging characteristics and the associated clinical presentations. Relevant anatomic considerations are highlighted by using illustrative examples and key differential diagnoses categorized according to regions, which include the anterior skull base, orbit, cavernous sinus, basal cisterns, and neck...
September 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Emily Parkhurst, Sridevi Abboy
PURPOSE: To examine the incidence, presentation, and outcome of optic gliomas in children with neurofibromatosis type 1 (NF1) in Southern California Kaiser Permanente. METHODS: The authors queried the Southern California Kaiser Permanente electronic medical record database to find patients diagnosed as having NF1. Genetics, ophthalmology, and imaging medical records of patients with optic glioma were reviewed. RESULTS: A total of 708 patients younger than 21 years had a diagnosis of NF1 in Southern California Kaiser Permanente and 30 (4...
August 18, 2016: Journal of Pediatric Ophthalmology and Strabismus
Frederico Teixeira, Carlos Augusto Metidieri Menegozzo, Sérgio Dias do Couto Netto, Gustavo Scapini, Eduardo Hiroshi Akaishi, Marcela Pereira Silva Vasconcelos, Edivaldo Massazo Utiyama
INTRODUCTION: Type 1 Neurofibromatosis (NF1) is one of the most common autosomal dominantly inherited multisystem disorders. It is associated with an increased risk of developing neurologic and gastrointestinal (GI) malignant neoplasms. The incidence of GI involvement is reported in 10-25% of patients. Less than 5% of NF1 patients with GI neoplasms manifest symptoms. The presence of synchronic gastrointestinal stromal and neuroendocrine tumors is rare in these patients. PRESENTATION OF CASES: The first case is a 37 year-old male patient with a history of abdominal pain for a few months...
2016: International Journal of Surgery Case Reports
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