Imaging in neurofibromatosis type 2: screening using magnetic resonance imaging. 1999

J E Gillespie
Neuroradiology Department, Manchester Royal Infirmary, England.

NF2 is a distinct entity characterized by bilateral eighth-nerve schwannomas, other intracranial schwannomas and meningiomas, and multiple spinal canal schwannomas, meningiomas and gliomas. Screening of the entire neural axis is mandatory because of the incidence of asymptomatic lesions. MRI is the technique of choice, particularly employing contrast-enhanced, T1-weighted sequences in multiple image planes.

UI MeSH Term Description Entries
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D009456 Neurofibromatosis 1 An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). Peripheral Neurofibromatosis,Recklinghausen Disease of Nerve,von Recklinghausen Disease,Cafe-au-Lait Spots with Pulmonic Stenosis,Molluscum Fibrosum,NF1 (Neurofibromatosis 1),Neurofibromatosis I,Neurofibromatosis Type 1,Neurofibromatosis Type I,Neurofibromatosis, Peripheral Type,Neurofibromatosis, Peripheral, NF 1,Neurofibromatosis, Peripheral, NF1,Neurofibromatosis, Type 1,Neurofibromatosis, Type I,Pulmonic Stenosis with Cafe-au-Lait Spots,Recklinghausen Disease, Nerve,Recklinghausen's Disease of Nerve,Recklinghausens Disease of Nerve,Watson Syndrome,von Recklinghausen's Disease,Cafe au Lait Spots with Pulmonic Stenosis,Neurofibromatoses, Peripheral,Neurofibromatoses, Type I,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Pulmonic Stenosis with Cafe au Lait Spots,Syndrome, Watson,Type 1 Neurofibromatosis,Type 1, Neurofibromatosis,Type I Neurofibromatoses,Type I, Neurofibromatosis,von Recklinghausens Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016518 Neurofibromatosis 2 An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life. Neurofibromatosis, Acoustic, Bilateral,Neurofibromatosis, Central, NF2,Neuroma, Acoustic, Bilateral,Schwannoma, Acoustic, Bilateral,Acoustic Neurinoma, Bilateral,Acoustic Schwannomas, Bilateral,Bilateral Acoustic Neurofibromatosis,Central Neurofibromatosis,Familial Acoustic Neuromas,NF2 (Neurofibromatosis 2),Neurofibromatosis II,Neurofibromatosis Type 2,Neurofibromatosis Type II,Neurofibromatosis, Central NF2,Neurofibromatosis, Central, NF 2,Neurofibromatosis, Type 2,Neurofibromatosis, Type II,Neurofibromatosis, central type,Acoustic Neurinomas, Bilateral,Acoustic Neurofibromatoses, Bilateral,Acoustic Neurofibromatosis, Bilateral,Acoustic Neuroma, Familial,Acoustic Neuromas, Familial,Acoustic Schwannoma, Bilateral,Bilateral Acoustic Neurinoma,Bilateral Acoustic Neurinomas,Bilateral Acoustic Neurofibromatoses,Bilateral Acoustic Schwannoma,Bilateral Acoustic Schwannomas,Central NF2 Neurofibromatoses,Central NF2 Neurofibromatosis,Central Neurofibromatoses,Familial Acoustic Neuroma,NF2s (Neurofibromatosis 2),Neurinoma, Bilateral Acoustic,Neurinomas, Bilateral Acoustic,Neurofibromatoses, Bilateral Acoustic,Neurofibromatoses, Central,Neurofibromatoses, Central NF2,Neurofibromatoses, Type 2,Neurofibromatoses, Type II,Neurofibromatosis IIs,Neurofibromatosis, Bilateral Acoustic,Neurofibromatosis, Central,Neuroma, Familial Acoustic,Neuromas, Familial Acoustic,Schwannoma, Bilateral Acoustic,Schwannomas, Bilateral Acoustic,Type 2 Neurofibromatoses,Type 2 Neurofibromatosis,Type II Neurofibromatoses,Type II Neurofibromatosis

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