A multidisciplinary transversal descriptive study was conducted from June to October 1992 to determine the clinical manifestations and laboratory findings observed in 66 patients with type 1 neurofibromatosis. Diagnostic criteria were those of the National Institute of Health as recommended for subjects over 20 years of age. All patients over the age of 25 had café au lait spots, neurofibromas, lentigines and nodules. Occurrence of lesions of the central nervous system was significantly earlier than peripheral nervous manifestations. The optic glioma was the most frequent lesion of the central nervous system. Complications were observed during the first twenty years of the disease. Based on these findings, we propose a clinical and laboratory work-up designed as a function of age.
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