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Neurofibromatosis headaches

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https://www.readbyqxmd.com/read/29908379/simultaneous-supratentorial-and-infratentorial-pilocytic-astrocytoma-in-an-adult-patient-with-concurrent-neurofibromatosis-type-1-and-hiv-infection
#1
Dalila Forte, Anabela Nabais, Carlos Pontinha, Manuela Mafra, Luís Mateus
BACKGROUND: Neurofibromatosis type 1 (NF1) is a tumour predisposing condition, being Pilocytic Astrocytomas (PA) a common benign central nervous system (CNS) tumour occurring in this setting. Although this is a common association, simultaneous development of multiple lesions is an infrequent finding, especially in non-optic or hypothalamic locations. CLINICAL CASE: A 41 year-old female patient with neurofibromatosis type 1 and uncontrolled human immunodeficiency virus (HIV) type 1 infection presents with a first generalized seizure and associated headache and ataxia...
June 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29683947/encephalocraniocutaneous-lipomatosis
#2
Abhishek Bavle, Rikin Shah, Naina Gross, Theresa Gavula, Alejandro Ruiz-Elizalde, Klaas Wierenga, Rene McNall-Knapp
A 5-year-old boy presented with worsening headaches for 3 months. On examination, he was found to have a hairless fatty tissue nevus of the scalp (nevus psiloliparus), subcutaneous soft tissue masses on the right side of his face, neck, mandible and right buttock and epibulbar dermoid of the right eye (choristoma) (Figs. 1A, B). Magnetic resonance imaging revealed a large suprasellar mass, which was debulked and found to be a pilocytic astrocytoma. Testing was not performed for the BRAF/KIAA1549 fusion or BRAFV600E mutation...
April 20, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29682141/communicating-hydrocephalus-and-coexisting-nonenhancing-tumor-an-ominous-sign-for-patients-with-neurofibromatosis-type-1
#3
Ryo Miyahara, Satoshi Tsutsumi, Satoshi Adachi, Hisato Ishii, Akihide Kondo, Yukimasa Yasumoto
A 26-year-old woman with familial neurofibromatosis type 1 sustained headache that worsened for 1 month. Neuroimaging revealed a mild ventriculomegaly and nonenhancing lesion in the pons. In spite of repeated cerebrospinal fluid examinations and magnetic resonance imaging, the etiology was not determined. The affected pons markedly enlarged in the following 2 months, with extensive leptomeningeal dissemination. Biopsy through hemilaminectomy of the T9 was diagnosed as glioblastoma multiforme. Prompt histologic examination should be performed when patients with familial neurofibromatosis type 1 manifest communicating hydrocephalus coexistent with a nonenhancing tumor...
June 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29616298/intracranial-malignant-peripheral-nerve-sheath-tumor-variant-an-unusual-neurovascular-phenotype-sarcoma-case-invading-through-the-petrous-bone
#4
Oliver D Mrowczynski, Robert J Greiner, Malika Kapadia, Julie C Fanburg-Smith, Mark R Iantosca, Elias B Rizk
INTRODUCTION: Intracranial malignant peripheral nerve sheath tumor (MPNST) is exceedingly rare. Previously reported cases of intracranial MPNST have been associated with development within a prominent cranial nerve. METHODS: This is the first report of an MPNST with both nerve sheath and vascular phenotype that follows the neurovascular bundle, without arising in a major cranial nerve or in the setting of neurofibromatosis type 1 (NF1). RESULTS: The patient is a 14-year-old boy with a history of worsening headaches for the past several months, left-sided hearing loss, nausea, vomiting, and vertigo...
April 3, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29279723/diagnostics-and-therapy-of-vestibular-schwannomas-an-interdisciplinary-challenge
#5
REVIEW
Steffen Rosahl, Christopher Bohr, Michael Lell, Klaus Hamm, Heinrich Iro
Vestibular schwannomas (VS) expand slowly in the internal auditory canal, in the cerebellopontine angle, inside the cochlear and the labyrinth. Larger tumors can displace and compress the brainstem. With an annual incidence of 1:100,000 vestibular schwannoma represent 6-7% of all intracranial tumors. In the cerebellopontine angle they are by far the most neoplasm with 90% of all lesions located in this region. Magnetic resonance imaging (MRI), audiometry, and vestibular diagnostics are the mainstays of the clinical workup for patients harboring tumors...
2017: GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery
https://www.readbyqxmd.com/read/29250697/two-girl-patients-with-medulloblastoma-case-reports
#6
Laura Daniela Marinău, Cristina Elena Singer, Cristian Meşină, Elena Carmen Niculescu, Ileana Puiu, Ileana Octavia Petrescu, Cristiana Geormăneanu, Augustina Cornelia Enculescu, Daniela Elise Tache, Ştefana Oana Purcaru, Simona Răciulă, Cosmina Lucia Damian
In childhood, the most common type of brain tumors is medulloblastoma, a highly malignant primary brain tumor that is found in the cerebellum or posterior fossa. The tumor mass increases and generates obstructive hydrocephalus. Risk factors (that might be involved in some cases) include the genetic syndrome such as type 1 neurofibromatosis, exposure to ionizing radiation and Epstein-Barr virus. Medulloblastoma is associated with recessively inherited Turcot disease and with conditions as ataxia-telangiectasia syndrome in several cases...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29036751/-diagnosis-and-management-of-vestibular-schwannomas-an-interdisciplinary-challenge
#7
Steffen Rosahl, Christopher Bohr, Michael Lell, Klaus Hamm, Heinrich Iro
Vestibular schwannomas expand slowly in the internal auditory canal, in the cerebellopontine angle, inside the cochlear and the labyrinth. Larger tumors can displace and compress the brainstem. With an annual incidence of 1:100 000 vestibular schwannoma represent 6-7% of all intracranial tumors. In the cerebellopontine angle they are by far the most neoplasm with 90% of all lesions located in this region. Magnetic resonance imaging (MRI), audiometry, and vestibular diagnostics are the mainstays of the clinical workup for patients harboring tumors...
April 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28980149/hemorrhagic-presentation-of-intracranial-pilocytic-astrocytomas-literature-review
#8
REVIEW
G Lakshmi Prasad, B N Nandeesh, Girish R Menon
Pilocytic astrocytomas (PAs) are seemingly innocuous and benign tumors. However, in recent times, many case series have documented high rates of hemorrhage in these neoplasms. We hereby provide a detailed analysis on hemorrhagic pilocytic astrocytomas (HPA) in adults and report one such case managed at our institute. In addition, salient differences between adult and pediatric hemorrhagic PA have been briefed. Hospital records were retrieved for our case. Literature review was conducted by searching online databases for the following keywords-pilocytic astrocytoma, hemorrhage, cranial, pediatric, and adults...
October 4, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28931105/neurofibromatosis-type-1-accompanied-by-craniofacial-pain-literature-review-and-descriptive-case
#9
Chunghwan Son, Ji Woon Park
Neurofibromatosis type 1 (NF-1) is a genetic disease with characteristic neurofibromas and bony dysplasia that manifest throughout the body, including the craniofacial region. NF-1 patients are known to frequently report chronic pain in areas below the head; however, the matter of pain in the craniofacial region in this patient group has not been handled intensively so far, and studies have mainly focused on headaches. This article comprehensively reviews the related literature and reports a case of an NF-1 patient whose chief complaint was headache and pain in the temporomandibular joint area...
2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28927324/parasagittal-meningioma-a-not-so-benign-entity
#10
Roger W Byard
While the majority of intracranial meningiomas have an indolent clinical course, sudden and unexpected death may rarely occur. Two cases are reported to demonstrate rapid clinical deterioration resulting in death in individuals with large, grade I, parasagittal meningiomas. Case 1 was a 46-year-old man with a history of headaches and epilepsy who suddenly collapsed and died. A large right frontal parasagittal meningioma with haemorrhage had compressed the brain and lateral ventricle, causing tonsillar herniation...
January 1, 2017: Medicine, Science, and the Law
https://www.readbyqxmd.com/read/28796925/neurological-comorbidity-in-children-with-neurofibromatosis-type-1
#11
Keiko Hirabaru, Muneaki Matsuo
BACKGROUND: The aim of this study was to determine the frequency of central nervous system comorbidities in children with neurofibromatosis type 1 (NF1). METHODS: We performed a nationwide survey to investigate neurological comorbidities in 3-15-year-old children with NF1 in Japan by sending questionnaires to pediatricians and pediatric neurologists. A secondary questionnaire was sent to the parents of identified NF1 patients to assess neurological comorbidities including headache, attention deficit-hyperactivity disorder (ADHD) Rating Scale (RS), and the Social Responsiveness Scale 2...
January 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28737257/unilateral-vestibular-schwannoma-and-meningiomas-in-a-patient-with-pik3ca-related-segmental-overgrowth-co-occurrence-of-mosaicism-for-2-rare-disorders
#12
J R Mills, A M Moyer, B R Kipp, A B Poplawski, L M Messiaen, D Babovic-Vuksanovic
A 28-year-old female with PIK3CA-related segmental overgrowth presented with headaches. She also had a unilateral vestibular schwannoma (VS), as well as 3 small (<2 cm) meningiomas, which according to the Manchester consensus diagnostic criteria for neurofibromatosis 2 (NF2) is sufficient for a clinical diagnosis. Analysis of blood revealed a mosaic PIK3CA c.2740G>A (p.Gly914Arg) mutation, confirming the diagnosis of PIK3CA-related overgrowth, but no mutations in NF2 were detected. Although VS has not previously been reported in PIK3CA-related segmental overgrowth, meningiomas have, raising the question of whether this patient's VS and meningiomas represent coincidental NF2 or phenotypic extension of her overgrowth syndrome...
January 2018: Clinical Genetics
https://www.readbyqxmd.com/read/28655484/-anterior-skull-base-schwannoma
#13
Miguel Esquivel-Miranda, Elier De la O Ríos, Emmanuelle Vargas-Valenciano, Eva Moreno-Medina
Schwannomas are nerve sheath tumours that originate in Schwann cells. They are usually solitary and sporadic and manifest on peripheral, spinal or cranial nerves. Intracranial schwannomas tend to manifest on the eighth cranial nerve, particularly in patients with neurofibromatosis type2. Anterior skull-base schwannomas represent less than 1% of all intracranial schwannomas. They are more frequent in young people and are typically benign. These tumours represent a diagnostic challenge due to their rarity and difficult differential diagnosis, and numerous theories have been postulated concerning their origin and development...
November 2017: Neurocirugía
https://www.readbyqxmd.com/read/28422438/moyamoya-syndrome-in-children-with-neurofibromatosis-type-1-italian-french-experience
#14
Claudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, Michel Zerah, Nathalie Boddaert, Raphael Calmon, Dominique Vidaud, Mario Cirillo, Giuseppe Cinalli, Giuseppe Mirone, Teresa Giugliano, Giulio Piluso, Alessandra D'Amico, Valeria Capra, Marco Pavanello, Armando Cama, Bruno Nobili, Stanislas Lyonnet, Silverio Perrotta
Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and 7.43 ± 4.27 years at the MMS diagnosis. In seven patients, MMS was diagnosed before or at the same time as NF1...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28413544/abdominal-schwannoma-in-a-case-of-neurofibromatosis-type-2-a-report-of-a-rare-combination
#15
Khandkar Ali Kawsar, Md Raziul Haque, Forhad Hossain Chowdhury
Neurofibromatosis-2 (NF2) is an autosomal-dominant disease, which is characterized by vestibular schwannomas (VSs) (acoustic neurinoma) as well as tumours of the peripheral and central nervous system, demonstrating a variety of expression. A 12-year-old girl presented to us with headache and ataxia for four months. We examined and found a lump in the right side of her abdomen. On magnetic resonance imaging (MRI) of brain, a bilateral VS at the cerebellopontine (CP) angle was detected, and on computerized tomography (CT) scan and ultrasonography of her abdomen a large retroperitoneal schwannoma was revealed in the right side of her abdomen...
January 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28229329/predicting-parent-health-related-quality-of-life-evaluating-conceptual-models
#16
Ellen K Defenderfer, Tiffany M Rybak, W Hobart Davies, Kristoffer S Berlin
PURPOSE: Parents of children with chronic illnesses are at risk for poor health-related quality of life (HRQoL), with numerous identified risk factors, but the most informative statistical model considering their combined impact is unclear. The authors conceptualized risk for poor HRQoL using a summed model, comprehensive multivariate model, and latent profile analysis (LPA). METHODS: Community parents completed an online survey, providing information about demographics, child's chronic illness, family functioning, and parent and child HRQoL...
June 2017: Quality of Life Research
https://www.readbyqxmd.com/read/27586875/schwannoma-of-the-trochlear-nerve-an-illustrated-case-series-and-a-systematic-review-of-management
#17
REVIEW
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
https://www.readbyqxmd.com/read/27500008/neurofibromatosis-type-1-and-chiari-type-1-malformation-a-case-report-and-literature-review-of-a-rare-association
#18
Marianne Pozetti, Telmo Augusto Barba Belsuzarri, Natalia C B Belsuzarri, Naira B Seixas, João F M Araujo
BACKGROUND: The association between neurofibromatosis type 1 (NF-I) and Chiari I malformation (CMI) is rare, and not many studies are reported in the literature. Performing magnetic resonance imaging (MRI) in patients with NF-1 is essential because several cases of Chiari type I are completely asymptomatic. We emphasize the need for inclusion of Chiari I as diagnosis in association with NF-1. CASE DESCRIPTION: The patient was a 51-year-old black man who presented with complaints of pain and decreased motion and sensibility of his hands, wrists, and forearms, along with progressive dysarthria...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27234610/a-novel-mutation-in-nf1-is-associated-with-diverse-intra-familial-phenotypic-variation-and-astrocytoma-in-a-chinese-family
#19
Santasree Banerjee, Yi Dai, Shengran Liang, Huishuang Chen, Yanyan Wang, Lihui Tang, Jing Wu, Hui Huang
Neurofibromatosis type 1 (NF1) is a dysregulated neurocutaneous disorder, characterized by neurofibromas and café-au-lait spots. NF1 is caused by mutations in the NF1 gene, encoding neurofibromin. Here, we present a clinical molecular study of a three-generation Chinese family with NF1. The proband was a male patient who showed café-au-lait spots and multiple subcutaneous neurofibromas over the whole body, but his siblings only had regional lesions. The man's daughter presented with severe headache and vomiting...
September 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27154453/neurofibromatosis-type-2-nf-2-or-schwannomatosis-case-report-study-and-diagnostic-criteria
#20
Maciej Radek, Bartłomiej Tomasik, Maciej Wojdyn, Dorota Snopkowska-Wiaderna, Maciej Błaszczyk, Andrzej Radek
INTRODUCTION: Neurofibromatosis type 2 (NF2) and schwannomatosis are entities that may, due to the similarity of clinical symptoms, cause diagnostic difficulties. Incidence rate of both diseases is similar and estimated between 1:25,000 and 1:40,000. The genes associated with the development of the aforementioned disorders are located on chromosome 22 and lay in proxmity. Schwannomatosis is characterized by an incomplete penetrance and the risk of its transmission to the offspring is significantly lower than in the case of NF 2...
2016: Neurologia i Neurochirurgia Polska
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