Bladder Plexiform Neurofibroma in Neurofibromatosis Carrier: a Case Report

Detalhes bibliográficos
Autor(a) principal: Domingos, Ana Carolina Bonini
Data de Publicação: 2018
Outros Autores: Gomes, Mireille Caroline, Nasr, Bárbara Pinto, Santos, Anna Cláudia Evangelista dos
Tipo de documento: Artigo
Idioma: por
eng
Título da fonte: Revista Brasileira de Cancerologia (Online)
Texto Completo: https://rbc.inca.gov.br/index.php/revista/article/view/209
Resumo: Introduction: Type 1 neurofibromatosis is an inherited autosomal dominant disease with complete penetrance and is related to mutations in the NF1 gene (17q11.2). It presents extremely variable expression and predisposition to the occurrence of tumors. Complications such as visceral neurofibromas occurs in only 1% of NF1 cases. Vesical neurofibromas are extremely rare. Case report: Here in, we expose a case of a 4 years old boy, who presented signs and symptoms of urinary and intestinal dysfunction associated with lumbosacral spine deviation. His physical exam had neurofibromatosis type 1 features and the complementary exams revealed a vesical neurofibroma. Subsequently, a neurofibromatosis type 1 diagnosis was performed. Conclusion: Diagnose tumor predisposing syndromes and associated complications is essential for these patients.
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spelling Bladder Plexiform Neurofibroma in Neurofibromatosis Carrier: a Case ReportNeurofibroma Plexiforme Vesical en Portador de Neurofibromatosis: Relato de CasoNeurofibroma Plexiforme Vesical em Portador de Neurofibromatose: Relato de casoNeurofibromatose 1Neurofibroma PlexiformeNeoplasias UrológicasNeurofibromatosis 1NeurofibromaPlexiformUrologic NeoplasmsNeurofibromatosis 1Neurofibroma PlexiformeNeoplasias UrológicasIntroduction: Type 1 neurofibromatosis is an inherited autosomal dominant disease with complete penetrance and is related to mutations in the NF1 gene (17q11.2). It presents extremely variable expression and predisposition to the occurrence of tumors. Complications such as visceral neurofibromas occurs in only 1% of NF1 cases. Vesical neurofibromas are extremely rare. Case report: Here in, we expose a case of a 4 years old boy, who presented signs and symptoms of urinary and intestinal dysfunction associated with lumbosacral spine deviation. His physical exam had neurofibromatosis type 1 features and the complementary exams revealed a vesical neurofibroma. Subsequently, a neurofibromatosis type 1 diagnosis was performed. Conclusion: Diagnose tumor predisposing syndromes and associated complications is essential for these patients.Introducción: La neurofibromatosis tipo 1 es una enfermedad hereditaria de carácter autosómico dominante, con penetración completa y relacionada con mutaciones en el gen NF1 (17q11.2). Se presenta una expresión extremadamente variable y predisposición a la ocurrencia de tumores. Las complicaciones como los neurofibromas viscerales están presentes en solo el 1% de los casos de NF1. Los neurofibromas vesicales son extremadamente raros. Relato del caso: Exponemos el caso de un niño de 4 años que presentaba signos y síntomas de disfunción urinaria e intestinal asociados a la desviación de la columna lumbosacra. En el examen se identificaron características típicas de neurofibromatosis y los exámenes complementarios permitieron el diagnostico de un neurofibroma vesical. Se ha concluido el diagnostico de neurofibromatosis del tipo 1. Conclusión: Diagnosticar los síndromes predisponentes del tumor y las complicaciones asociadas son esenciáis para estos pacientes.Introdução: A neurofibromatose do tipo 1 (NF1) e uma doença hereditária de caráter autossômico dominante, com reentrância completa e relacionada a mutações no gene NF1 (17q11.2). Apresenta expressão extremamente variável e predisposição a ocorrência de tumores. Complicações como neurofibromas viscerais estão presentes em apenas 1% dos casos de NF1. Neurofibromas vesicais são extremamente raros. Relato do caso: O presente caso faz referencia a um paciente do sexo masculino com 4 anos de idade que apresentava sinais e sintomas de disfunção urinaria e intestinal associados a desvio da coluna lombossacra. Ao exame, foram identificadas características típicas de NF1 e os exames complementares permitiram o diagnostico de um neurofibroma vesical. Posteriormente, foi concluído o diagnostico de NF1. Conclusão: O diagnostico de síndromes predisponentes ao câncer e o rastreio de tumores associados a essas condições são essenciais aos portadores dessas doenças.INCA2018-12-31info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionRelato de Casoapplication/pdfapplication/pdfhttps://rbc.inca.gov.br/index.php/revista/article/view/20910.32635/2176-9745.RBC.2018v64n4.209Revista Brasileira de Cancerologia; Vol. 64 No. 4 (2018): Oct./Nov./Dec.; 581-585Revista Brasileira de Cancerologia; Vol. 64 Núm. 4 (2018): oct./nov./dic.; 581-585Revista Brasileira de Cancerologia; v. 64 n. 4 (2018): out./nov./dez.; 581-5852176-974510.32635/2176-9745.RBC.2018v64n4reponame:Revista Brasileira de Cancerologia (Online)instname:Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA)instacron:INCAporenghttps://rbc.inca.gov.br/index.php/revista/article/view/209/141https://rbc.inca.gov.br/index.php/revista/article/view/209/412Domingos, Ana Carolina BoniniGomes, Mireille CarolineNasr, Bárbara PintoSantos, Anna Cláudia Evangelista dosinfo:eu-repo/semantics/openAccess2021-11-29T20:05:27Zoai:rbc.inca.gov.br:article/209Revistahttps://rbc.inca.gov.br/index.php/revistaPUBhttps://rbc.inca.gov.br/index.php/revista/oairbc@inca.gov.br0034-71162176-9745opendoar:2021-11-29T20:05:27Revista Brasileira de Cancerologia (Online) - Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA)false
dc.title.none.fl_str_mv Bladder Plexiform Neurofibroma in Neurofibromatosis Carrier: a Case Report
Neurofibroma Plexiforme Vesical en Portador de Neurofibromatosis: Relato de Caso
Neurofibroma Plexiforme Vesical em Portador de Neurofibromatose: Relato de caso
title Bladder Plexiform Neurofibroma in Neurofibromatosis Carrier: a Case Report
spellingShingle Bladder Plexiform Neurofibroma in Neurofibromatosis Carrier: a Case Report
Domingos, Ana Carolina Bonini
Neurofibromatose 1
Neurofibroma Plexiforme
Neoplasias Urológicas
Neurofibromatosis 1
Neurofibroma
Plexiform
Urologic Neoplasms
Neurofibromatosis 1
Neurofibroma Plexiforme
Neoplasias Urológicas
title_short Bladder Plexiform Neurofibroma in Neurofibromatosis Carrier: a Case Report
title_full Bladder Plexiform Neurofibroma in Neurofibromatosis Carrier: a Case Report
title_fullStr Bladder Plexiform Neurofibroma in Neurofibromatosis Carrier: a Case Report
title_full_unstemmed Bladder Plexiform Neurofibroma in Neurofibromatosis Carrier: a Case Report
title_sort Bladder Plexiform Neurofibroma in Neurofibromatosis Carrier: a Case Report
author Domingos, Ana Carolina Bonini
author_facet Domingos, Ana Carolina Bonini
Gomes, Mireille Caroline
Nasr, Bárbara Pinto
Santos, Anna Cláudia Evangelista dos
author_role author
author2 Gomes, Mireille Caroline
Nasr, Bárbara Pinto
Santos, Anna Cláudia Evangelista dos
author2_role author
author
author
dc.contributor.author.fl_str_mv Domingos, Ana Carolina Bonini
Gomes, Mireille Caroline
Nasr, Bárbara Pinto
Santos, Anna Cláudia Evangelista dos
dc.subject.por.fl_str_mv Neurofibromatose 1
Neurofibroma Plexiforme
Neoplasias Urológicas
Neurofibromatosis 1
Neurofibroma
Plexiform
Urologic Neoplasms
Neurofibromatosis 1
Neurofibroma Plexiforme
Neoplasias Urológicas
topic Neurofibromatose 1
Neurofibroma Plexiforme
Neoplasias Urológicas
Neurofibromatosis 1
Neurofibroma
Plexiform
Urologic Neoplasms
Neurofibromatosis 1
Neurofibroma Plexiforme
Neoplasias Urológicas
description Introduction: Type 1 neurofibromatosis is an inherited autosomal dominant disease with complete penetrance and is related to mutations in the NF1 gene (17q11.2). It presents extremely variable expression and predisposition to the occurrence of tumors. Complications such as visceral neurofibromas occurs in only 1% of NF1 cases. Vesical neurofibromas are extremely rare. Case report: Here in, we expose a case of a 4 years old boy, who presented signs and symptoms of urinary and intestinal dysfunction associated with lumbosacral spine deviation. His physical exam had neurofibromatosis type 1 features and the complementary exams revealed a vesical neurofibroma. Subsequently, a neurofibromatosis type 1 diagnosis was performed. Conclusion: Diagnose tumor predisposing syndromes and associated complications is essential for these patients.
publishDate 2018
dc.date.none.fl_str_mv 2018-12-31
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Relato de Caso
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://rbc.inca.gov.br/index.php/revista/article/view/209
10.32635/2176-9745.RBC.2018v64n4.209
url https://rbc.inca.gov.br/index.php/revista/article/view/209
identifier_str_mv 10.32635/2176-9745.RBC.2018v64n4.209
dc.language.iso.fl_str_mv por
eng
language por
eng
dc.relation.none.fl_str_mv https://rbc.inca.gov.br/index.php/revista/article/view/209/141
https://rbc.inca.gov.br/index.php/revista/article/view/209/412
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv INCA
publisher.none.fl_str_mv INCA
dc.source.none.fl_str_mv Revista Brasileira de Cancerologia; Vol. 64 No. 4 (2018): Oct./Nov./Dec.; 581-585
Revista Brasileira de Cancerologia; Vol. 64 Núm. 4 (2018): oct./nov./dic.; 581-585
Revista Brasileira de Cancerologia; v. 64 n. 4 (2018): out./nov./dez.; 581-585
2176-9745
10.32635/2176-9745.RBC.2018v64n4
reponame:Revista Brasileira de Cancerologia (Online)
instname:Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA)
instacron:INCA
instname_str Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA)
instacron_str INCA
institution INCA
reponame_str Revista Brasileira de Cancerologia (Online)
collection Revista Brasileira de Cancerologia (Online)
repository.name.fl_str_mv Revista Brasileira de Cancerologia (Online) - Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA)
repository.mail.fl_str_mv rbc@inca.gov.br
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