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dc.contributor.authorEvans, D Gareth R
dc.contributor.authorHuson, S M
dc.contributor.authorDonnai, D
dc.contributor.authorNeary, W
dc.contributor.authorBlair, Val
dc.contributor.authorNewton, V
dc.contributor.authorHarris, R
dc.date.accessioned2010-08-11T15:29:50Z
dc.date.available2010-08-11T15:29:50Z
dc.date.issued1992-08
dc.identifier.citationA clinical study of type 2 neurofibromatosis. 1992, 84 (304):603-18 Q J Meden
dc.identifier.issn0033-5622
dc.identifier.pmid1484939
dc.identifier.urihttp://hdl.handle.net/10541/109471
dc.description.abstractThe clinical features, age at onset of symptoms and survival of 150 patients with type 2 neurofibromatosis were studied. The mean age at onset was 21.57 years (n = 110) and no patients presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial meningiomas and spinal tumours. In 100 patients studied personally by the authors 44 per cent presented with deafness and this was unilateral in the majority (35/44). Deafness was accompanied by tinnitus in a further 10 per cent and muscle weakness or wasting was the first symptom in 12 per cent. Less common presenting symptoms were seizures (8 per cent), vertigo (8 per cent) numbness and tingling (2 per cent) and blindness (1 per cent). Eleven patients were diagnosed asymptomatically through screening. Café au lait spots occurred in 43 per cent (n = 43) but only one case had six. Skin tumours were detected in 68 per cent (68/100) and 38 per cent (34/90) had an identifiable lens opacity or cataract. The mean age at death in 40 cases was 36.25 years and all but one death was a result of a complication of neurofibromatosis. There are marked inter-family differences in disease severity and tumour susceptibility.
dc.language.isoenen
dc.subject.meshAdult
dc.subject.meshDeafness
dc.subject.meshFemale
dc.subject.meshGreat Britain
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMuscular Diseases
dc.subject.meshNeurofibromatosis 2
dc.subject.meshPrevalence
dc.titleA clinical study of type 2 neurofibromatosis.en
dc.typeArticleen
dc.contributor.departmentDepartment of Medical Genetics, St Mary's Hospital, Manchester, UK.en
dc.identifier.journalThe Quarterly Journal of Medicineen
html.description.abstractThe clinical features, age at onset of symptoms and survival of 150 patients with type 2 neurofibromatosis were studied. The mean age at onset was 21.57 years (n = 110) and no patients presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial meningiomas and spinal tumours. In 100 patients studied personally by the authors 44 per cent presented with deafness and this was unilateral in the majority (35/44). Deafness was accompanied by tinnitus in a further 10 per cent and muscle weakness or wasting was the first symptom in 12 per cent. Less common presenting symptoms were seizures (8 per cent), vertigo (8 per cent) numbness and tingling (2 per cent) and blindness (1 per cent). Eleven patients were diagnosed asymptomatically through screening. Café au lait spots occurred in 43 per cent (n = 43) but only one case had six. Skin tumours were detected in 68 per cent (68/100) and 38 per cent (34/90) had an identifiable lens opacity or cataract. The mean age at death in 40 cases was 36.25 years and all but one death was a result of a complication of neurofibromatosis. There are marked inter-family differences in disease severity and tumour susceptibility.


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