Q J Med 1992; 84: 603-618
© 1992 Association of Physicians
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A Clinical Study of Type 2 Neurofibromatosis
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*Department of Medical Genetics, Churchill Hospital Oxford
Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester Manchester
CRC Department of Cancer Genetics, Peterson Institute for Cancer Research, Christie Hospital Manchester
CRC Paediatric and Familial Cancer Research Group, Christie Hospital Manchester
Department of Medical Genetics, St Mary's Hospital Manchester
Address correspondence to Dr DGR Evans, Department of Medical Genetics, St Mary's Hospital, Manchester MI3 0JH, UK.
Accepted for publication 12 June 1992.
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 and 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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