Data/hora: 05/06/2024 11:22:49

Provedor de dados: | 56
País: | Brazil
Título: | High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1
Autores: | Trovó-Marqui,A.B.; Goloni-Bertollo,E.M.; Valério,N.I.; Pavarino-Bertelli,E.C.; Muniz,M.P.; Teixeira,M.F.; Antonio,J.R.; Tajara,E.H.
Data: | 2005-09-01
Ano: | 2005
Palavras-chave: | Neurofibromatosis type I; Plexiform neurofibroma; Mental retardation; Learning difficulties; Scoliosis.
Resumo: | 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% females, 40% males) who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axillary freckling, 45% had inguinal freckling, and 87.5% had Lisch nodules. Cutaneous neurofibromas were observed in 96%, and 40% presented plexiform neurofibromas. A positive family history of NF1 was found in 60%, and mental retardation occurred in 35%. Some degree of scoliosis was noted in 49%, 51% had macrocephaly, 40% had short stature, 76% had learning difficulties, and 2% 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&gt;A) and four polymorphisms (c.3315-27G&gt;A, V1146I, V1317A, c.4514+11C&gt;G) were identified. These data were recently published.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000900020
Editor: | Associação Brasileira de Divulgação Científica
Relação: | 10.1590/S0100-879X2005000900020
Formato: | text/html
Fonte: | Brazilian Journal of Medical and Biological Research  v.38 n.9 2005
Fonte: | info:eu-repo/semantics/openAccess