2.50
Hdl Handle:
http://hdl.handle.net/10541/109471
Title:
A clinical study of type 2 neurofibromatosis.
Authors:
Evans, D Gareth R; Huson, S M; Donnai, D; Neary, W; Blair, Val; Newton, V; Harris, R
Abstract:
The 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.
Affiliation:
Department of Medical Genetics, St Mary's Hospital, Manchester, UK.
Citation:
A clinical study of type 2 neurofibromatosis. 1992, 84 (304):603-18 Q J Med
Journal:
The Quarterly Journal of Medicine
Issue Date:
Aug-1992
URI:
http://hdl.handle.net/10541/109471
PubMed ID:
1484939
Type:
Article
Language:
en
ISSN:
0033-5622
Appears in Collections:
All Christie Publications ; All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorEvans, D Gareth Ren
dc.contributor.authorHuson, S Men
dc.contributor.authorDonnai, Den
dc.contributor.authorNeary, Wen
dc.contributor.authorBlair, Valen
dc.contributor.authorNewton, Ven
dc.contributor.authorHarris, Ren
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.en
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

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