ABSTRACT
A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60 percent females, 40 percent males) who met the NIH criteria for the diagnosis of NF1, 98 percent had more than six café-au-lait patches, 94.5 percent had axillary freckling, 45 percent had inguinal freckling, and 87.5 percent had Lisch nodules. Cutaneous neurofibromas were observed in 96 percent, and 40 percent presented plexiform neurofibromas. A positive family history of NF1 was found in 60 percent, and mental retardation occurred in 35 percent. Some degree of scoliosis was noted in 49 percent, 51 percent had macrocephaly, 40 percent had short stature, 76 percent had learning difficulties, and 2 percent had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published.