Neurofibromatosis in Gothenburg, Sweden. I. Background, study design and epidemiology.

摘要: In this study, a clinical evaluation was carried out for all patients who were at or beyond 20 years of age and known to the health services as cases neurofibromatosis (NF) resident in Gothenburg, Sweden, January 1, 1978. The approach study clinical, with emphasis on general somatic, psychiatric genetic aspects NF. included ascertained by scrutiny available archives medical records area, requests every doctor city Gothenburg report any possible case NF him her. This search identified 74 living census day. All but 3 these had definite von Recklinghausen (NF-1). represents prevalence 1 4,600 adults, which must be considered minimum frequency estimate. 35 women mean 46 (+/- 17) 39 men 43 14) years. highest range 40-50 years, while it significantly reduced ages above range, most probably owing an excess mortality. Sixty-nine original seventy-four personally interviewed examined, including without NF-1. classified according degree severity into three categories: mild, moderate severe. number each groups was, respectively, 18, 13. A detailed description patient's pigmentary abnormalities neurofibromas (number, appearance localization) recorded. Findings osseous dysplastic changes (12-16%), endocrine (pheochromocytoma, 3%), malignant disease (sarcoma, 4%), epilepsy (3%) other somatic diseases also Mild mental retardation present 45% patients. did not appear progressive, severe found. Mental illness occurred 23 (33%) patients, defined mild 8, 7 8. No uniform syndrome Depressive syndrome, anxiety state vegetative dysfunction organic brain frequently observed. Hostile feelings autonomic disturbances common symptoms, found 50% abnormal neurological findings, presumably indicating manifestations NF-1 central nervous system, increased among illness.(ABSTRACT TRUNCATED AT 400 WORDS)