Results 191 to 200 of about 24,619,681 (234)
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Otolaryngologic Clinics of North America, 2015
Neurofibromatosis type 2 (NF2) is a rare syndrome characterized by bilateral vestibular schwannomas, multiple meningiomas, cranial nerve tumors, spinal tumors, and eye abnormalities. NF2 presents unique challenges to the otologist because hearing loss may be the presenting complaint leading to the diagnosis of the disorder.
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Neurofibromatosis type 2 (NF2) is a rare syndrome characterized by bilateral vestibular schwannomas, multiple meningiomas, cranial nerve tumors, spinal tumors, and eye abnormalities. NF2 presents unique challenges to the otologist because hearing loss may be the presenting complaint leading to the diagnosis of the disorder.
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2004
Type 2 neurofibromatosis (NF2) is an autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene NF2 on chromosome 22. Around 1 in 33000 people are born with an NF2 mutation although more than one-third of the 60% of de novo cases are not conceived with the mutation but this develops later in embryogenesis (mosaics).
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Type 2 neurofibromatosis (NF2) is an autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene NF2 on chromosome 22. Around 1 in 33000 people are born with an NF2 mutation although more than one-third of the 60% of de novo cases are not conceived with the mutation but this develops later in embryogenesis (mosaics).
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Retinal Hamartoma in Neurofibromatosis 2
Archives of Ophthalmology, 1990In 1973 Gass1recorded the occurrence of combined pigment epithelial and retinal hamartoma (CPERH) in a patient with cutaneous signs suggesting neurofibromatosis (NF). It has now been proven that NF consists of at least two distinct diseases, each caused by a unique chromosomal defect: NF-1 (the von Recklinghausen type) and NF-2 (the bilateral acoustic ...
K, Landau +3 more
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[Neurofibromatosis 2 (bilateral acoustic neurofibromatosis)].
Schweizerische medizinische Wochenschrift, 1989We report a personal series of 28 patients with neurofibromatosis 2 (NF-2), emphasizing the differences from classical NF-1. The hallmark of NF-2 is bilateral acoustic neuromas with initial symptoms usually occurring in the second or third decade. The natural history may lead to bilateral deafness, but hearing loss may also be a complication of surgery.
C, Yalcinkaya +2 more
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Neurofibromatosis 2 in the Pediatric Population
Journal of Child Neurology, 2003Neurofibromatosis 2 is a severe autosomal dominant disorder characterized by the occurrence of bilateral vestibular schwannomas and other benign tumors of the nervous system. Excellent natural history studies exist for adults with neurofibromatosis 2, but limited outcome data are available for children with neurofibromatosis 2.
Fabio, Nunes, Mia, MacCollin
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Pseudopapilledema in neurofibromatosis type 2
American Journal of Ophthalmology, 2000To report a case of neurofibromatosis type 2 with pseudopapilledema secondary to a prepapillary gliotic membrane.Case report. Results of an ocular examination and fluorescein angiography of a patient are described.Fundus examination of a 14-year-old male with neurofibromatosis type 2 revealed an irregular elevation of the optic nerve and a perifoveal ...
G T, Lueder, J T, Doll
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Ocular Abnormalities in Neurofibromatosis 2
Journal of Neuro-Ophthalmology, 1995To evaluate the ocular abnormalities in patients with clinically diagnosed neurofibromatosis 2 and asymptomatic gene carriers.Probands were ascertained through a surgical otolaryngology practice. In a cross-sectional study, we examined 49 patients with neurofibromatosis 2, 30 offspring of patients, and, as a comparison group, 18 parents and siblings of
N K, Ragge +6 more
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Neurofibromatosis 2 and malignant mesothelioma
Neurology, 2002Mutations of the neurofibromatosis 2 (NF2) tumor suppressor gene cause the inherited disorder NF2 and are also common in malignant mesothelioma, which is not a characteristic feature of NF2. The authors report an asbestos-exposed person with NF2 and malignant mesothelioma. Immunohistochemical analysis of the mesothelioma confirmed loss of expression of
M E, Baser +8 more
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Preservation of hearing in neurofibromatosis 2
Otolaryngology–Head and Neck Surgery, 1990Preservation of hearing in the neurofibromatosis 2 (central neurofibromatosis) patient has been Infrequently documented. This goal can be attained in selected patients and should be more frequently accomplished in the future with improved diagnostic capabilities and improved surgical techniques.
R T, Miyamoto +3 more
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Neurofibromatosis Types 1 and 2
The Neurologist, 2006Neurofibromatosis types 1 and 2 (NF1 and NF2) are autosomal dominant neurocutaneous disorders with some similarities and many differences. They are frequently discussed together and often confused for one another by clinicians. Both disorders have widely variable presentations and degrees of severity. A thorough understanding of these complex disorders
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