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Neurofibromatosis headaches

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...
February 22, 2017: Quality of Life Research
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
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
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
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
Andrea Manto, Gaetana Manzo, Angela De Gennaro, Vincenzo Martino, Vincenzo Buono, Antonietta Serino
Olfactory schwannomas, also described as subfrontal or olfactory groove schwannomas, are very rare tumors, whose pathogenesis is still largely debated. We report a case of olfactory schwannoma in a 39-year-old woman who presented with anosmia and headache. The clinical examination did not show lesions in the nose-frontal region and there was no history of neurofibromatosis. Head MRI and CT scan revealed a lobulated extra-axial mass localized in the right anterior cranial fossa that elevated the ipsilateral frontal pole...
June 2016: Neuroradiology Journal
Vithal Rangarajan, Amit Mahore, Manoj Patil, Prashant Sathe, Amol Kaswa, Sandeep Gore, Pralhad Dharurkar, Juhi Kawale
A 22-year-old female, a known case of neurofibromatosis 1 (NF1), presented with a congenital swelling in the left occipital region. She had developed recent onset dysphagia and localized occipital headache. Neuroradiology revealed a left occipital meningoencephalocele and a left parapharyngeal meningocele. This was associated with ventriculomegaly. She was advised on cranioplasty along with duraplasty which she denied. She agreed to a lumbar-peritoneal shunt. She described a dramatic improvement in her symptoms following the lumbar-peritoneal shunt...
2015: Case Reports in Neurological Medicine
Sang Hyuk Lee, Ji Hwan Jang, Kyu Hong Kim, Young Zoon Kim
We herein report on a patient with a cerebral aneurysm located at the petrous portion of the internal carotid artery (ICA). An 18-year-old male, previously diagnosed with neurofibromatosis, was referred to our emergency service complaining of severe headache, pulsatile tinnitus, nausea, and vomiting which occurred suddenly. Neuro-radiological studies including computed tomography and magnetic resonance imaging of the cerebral artery showed a large aneurysm arising from the petrous segment of the left ICA. He was treated with a neuro-interventional technique such as intra-arterial stenting and coil embolization for the aneurysm...
September 2015: Journal of Cerebrovascular and Endovascular Neurosurgery
Tushar B Patil, Maneesh Kumar Singh, Rakesh Lalla
Type 1 neurofibromatosis (NF1), which mainly involves ectodermal tissue arising from the neural crest, can increase the risk of developing malignant peripheral nerve sheath tumors (MPNSTs), soft tissue sarcomas and subarachnoid hemorrhage. We describe a patient with neurofibromatosis type 1 who developed soft tissue sarcoma, MPNST, and subarachnoid hemorrhage. A 22-year-old male reported right focal seizures consequence to severe headache. He had a weakness in both legs, could walk only with the support of a stick for the last 3 months and suffered from constipation and intermittent urinary retention for the past 1 week...
July 2015: Journal of Natural Science, Biology, and Medicine
Hidehiro Takei, Emilie Rouah, Meenakshi B Bhattacharjee
Pleomorphic xanthoastrocytoma (PXA) is an uncommon tumor of young adults that typically occurs supratentorially. It is generally considered to be a low-grade, circumscribed tumor that when treated by surgical resection has a relatively favorable outcome. Cases of cerebellar PXA are rare, and those associated with neurofibromatosis type 1 (NF1) are even less common, with only 2 cases reported to date. We present herein a third case of PXA-NF1 with unusual features. A 33-year-old woman presented with a history of headache...
2015: International Journal of Clinical and Experimental Pathology
Shazia K Afridi, Guy D Leschziner, Rosalie E Ferner
In our clinical practice, we noticed a high frequency of headaches amongst NF1 patients. We sought to characterize the phenotype and prevalence of headache in our cohort of NF1 patients attending the London NF clinic and to determine the impact on quality of life. Participants over the age of 16 fulfilling diagnostic criteria for NF1 from the general NF1 outpatient clinics at Guy's and St. Thomas' NHS Foundation Trust and the nationally commissioned Complex NF1 service were asked to fill in a questionnaire during the clinic consultation...
October 2015: American Journal of Medical Genetics. Part A
Flavio Mantelli, Solmaz Abdolrahimzadeh, Giuseppe Mannino, Alessandro Lambiase
We report the case of a 29-year-old female patient who presented with an acute onset of anisocoria, blurred vision, nausea and severe left-sided headache. There was no history of trauma, drug abuse, or instillation of topical mydriatic compounds. The ocular history was negative for similar events. On presentation, her visual acuity was 0.2 in the left and 1.0 in the right eye with a +2.5 dpt sph. correction. Slit-lamp examination demonstrated a shallow anterior chamber as well as the presence of iris nodules in both eyes...
September 2014: Case Reports in Ophthalmology
Katsunori Asai, Shoichi Tani, Yohei Mineharu, Yoshinori Tsurusaki, Yukihiro Imai, Yuji Agawa, Koichi Iwaki, Naomichi Matsumoto, Nobuyuki Sakai
Schwannomatosis is the third major form of neurofibromatosis (NF) and is distinct from NF1 and NF2. The disease is not well recognized in Asian countries and the role of germline SMARCB1 mutations requires investigation. A 35-year-old Japanese man complaining of headache underwent an MRI examination, which showed a cystic tumor at the left cerebellopontine angle. The tumor was surgically removed and diagnosed as vagus nerve schwannoma. He had a past medical history of multiple schwannomas of the neck, groin and intercostal nerves, which were also treated surgically...
July 2015: Brain Tumor Pathology
Cong Han, Wei-Zhong Yang, Hong-Tao Zhang, Ting Ye, Lian Duan
Moyamoya syndrome (MMS) associated with neurofibromatosis type 1 (NF1) has rarely been reported anywhere in the world, particularly in Asia. Because of the rarity of this disorder, its natural history, clinical symptoms, management, and follow-up findings remain unclear. The objective of this study was to evaluate the clinical presentation, neurological imaging, and long-term outcomes of patients with this disease by reviewing Chinese patients with MMS associated with NF1. A retrospective review was conducted from the moyamoya disease (MMD) and MMS patient database of our hospital...
February 2015: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Nicola Montemurro, Ardico Cocciaro, Antonio Meola, Ludovico Lutzemberger, Riccardo Vannozzi
Study Design Case report. Objective To present a rare case of hydrocephalus following bilateral dumbbell-shaped C2 spinal neurofibromas resection and postoperative cervical pseudomeningocele in a patient with neurofibromatosis type 1 (NF1). Methods The patient's clinical course is retrospectively reviewed. A 37-year-old man affected by NF1 referred to our department for progressive weakness of both lower extremities and gait disturbance. Radiological imaging showed bilateral dumbbell-shaped C2 spinal neurofibromas...
October 2014: Evidence-based Spine-care Journal
Julien Van-Gils, Jérôme Harambat, Charlotte Jubert, Dominique Vidaud, Brigitte Llanas, Yves Perel, Didier Lacombe, Cyril Goizet
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors with a birth incidence rate of 1 in 2500-3000. 50% of cases are sporadic. The diagnosis is exclusively based on clinical assessment with clinical diagnostic criteria such as café-au-lait spots, neurofibromas, axillary or groin freckling, Lisch nodules, optic pathway glioma, bony dysplasia and first-degree relative with NF1. We report a family with NF1 in which two members presented atypical clinical features in addition to the classical diagnostic criteria...
November 2014: European Journal of Medical Genetics
Masao Tago, Atsuro Terahara, Keiichi Nakagawa, Yukimasa Aoki, Kuni Ohtomo, Masahiro Shin, Hiroki Kurita
The authors describe acute deterioration in facial and acoustic neuropathies following radiosurgery for acoustic neuromas. In May 1995, a 26-year-old man, who had no evidence of neurofibromatosis Type 2, was treated with gamma knife radiosurgery (GKS; maximum dose 20 Gy and margin dose 14 Gy) for a right-sided intracanalicular acoustic tumor. Two days after the treatment, he developed headache, vomiting, right-sided facial weakness, tinnitus, and right hearing loss. There was a deterioration of facial nerve function and hearing function from pretreatment values...
December 2013: Journal of Neurosurgery
Tae-Seok Jeong, Gi-Taek Yee
Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited familial tumor syndrome. Benign tumors such as pilocytic astrocytoma, optic glioma make up the majority of intracranial neoplasms in patients with NF1. There have only been a handful of cases in which adult glioblastoma presented with NF1. A 32-year-old male presented with headache and radiological studies showing a high grade intra-axial tumor. The patient underwent gross total surgical excision and the pathology revealed glioblastoma. After the surgery, he received concomitant chemo-radiotherapy with temozolomide and adjuvant temozolomide chemotherapy...
April 2014: Brain Tumor Research and Treatment
Chinwe C Madubata, Margaret A Olsen, Dustin L Stwalley, David H Gutmann, Kimberly J Johnson
PURPOSE: Neurofibromatosis type 1 has been linked to several neurological conditions, including epilepsy, Parkinson disease, headache, multiple sclerosis, and sleep disturbances, predominantly through case reports and patient series that lack comparison groups. Our objective was to assess whether specific neurological conditions occur more frequently in individuals with neurofibromatosis type 1 versus those without neurofibromatosis type 1. METHODS: We used the 2006-2010 MarketScan Commercial Claims and Encounters database to examine associations between neurological conditions and neurofibromatosis type 1...
January 2015: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Ricardo Silva Pinho, Eduardo Ferracioli Fusão, Joelma Karina Sagica Fernandes Paschoal, Eliana Maria Monteiro Caran, Thaís Soares Cianciarullo Minett, Luiz Celso Pereira Vilanova, Marcelo Rodrigues Masruha
BACKGROUND: Despite the high prevalence of headache in patients with neurofibromatosis type 1 (NF1), little data exist regarding the classification and characterization of headaches experienced by these patients. This paper describes a study of headache in patients with NF1 compared with healthy controls. METHODS: In this transversal study, participants (aged 4-19 years) were classified into two groups: NF1 patients or control subjects. The diagnosis of NF1 was performed according to the diagnostic criteria of the National Institutes of Health Consensus Conference, and the headache diagnosis was performed according to the diagnostic criteria of the International Classification of Headache Disorders, Second Edition...
December 2014: Pediatrics International: Official Journal of the Japan Pediatric Society
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