Beatriz Barreto-Duarte1,2,3,4, Fabiana H Andrade-Gomes3, María B Arriaga1,2,5, Mariana Araújo-Pereira1,2,6, Juan Manuel Cubillos-Angulo1,2,5, Bruno B Andrade1,2,3,4,5,6,7. 1. Laboratório de Inflamação e Biomarcadores, Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, Bahia, Brazil. 2. Multinational Organization Network Sponsoring Translational and Epidemiological Research (MONSTER) Initiative, Salvador, Bahia, Brazil. 3. Curso de Medicina, Universidade Salvador (UNIFACS), Salvador, Bahia, Brazil. 4. Programa de Pós-Graduação em Clínica Médica, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil. 5. Curso de Medicina, Centro Universitário Faculdade de Tecnologia e Ciências (UniFTC), Salvador, Bahia, Brazil. 6. Faculdade de Medicina, Universidade Federal da Bahia, Salvador, Bahia, Brazil. 7. Curso de Medicina, Escola Bahiana de Medicina e Saúde Pública (EBMSP), Salvador, Bahia, Brazil.
Abstract
BACKGROUND: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease that affects one in every 3000 individuals. This disease can present a wide range of clinical manifestations, ranging from skin abnormalities to severe vascular damage. Although not commonly recognized in the context of NF-1, cerebrovascular disease (CVD), can be often present since childhood and diagnosed just later in life. When present, NF-1-associated CVD clinical manifestations may include headache, cognitive deficits and ultimately aneurysm rupture, causing death. Thus, CVD plays an important role in the clinical manifestations, disease severity and prognosis of patients with NF-1. This systematic review aims to summarize the body of evidence linking NF-1 and CVD in children. METHODS: Two independent investigators performed a systematic review on the PubMed and EMBASE search platforms, using the following key terms: "neurofibromatosis type 1", "Von Recklinghausen's disease", "children", "adolescents", "stroke", "Moyamoya disease", "vascular diseases", "cerebrovascular disorders", "aneurysm" and "congenital abnormalities". Studies focused on assessing the development of CVD in children with NF-1 were included. RESULTS: Seven studies met the inclusion criteria. Twelve different clinical manifestations have been associated with cerebrovascular changes in children with NF-1; 44,5% of diagnosed patients were asymptomatic. CONCLUSION: The available evidence suggests that CVDs are related with the progression of NF-1, even in the absence of a clear clinical manifestation. In addition, improved prognosis was observed when imaging tests were performed to screen for cerebrovascular alterations early during the clinical investigation. Early diagnosis of CVD in NF-1 patients foster implementation of timely interventions, directly impacting clinical outcomes.
BACKGROUND:Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease that affects one in every 3000 individuals. This disease can present a wide range of clinical manifestations, ranging from skin abnormalities to severe vascular damage. Although not commonly recognized in the context of NF-1, cerebrovascular disease (CVD), can be often present since childhood and diagnosed just later in life. When present, NF-1-associated CVD clinical manifestations may include headache, cognitive deficits and ultimately aneurysm rupture, causing death. Thus, CVD plays an important role in the clinical manifestations, disease severity and prognosis of patients with NF-1. This systematic review aims to summarize the body of evidence linking NF-1 and CVD in children. METHODS: Two independent investigators performed a systematic review on the PubMed and EMBASE search platforms, using the following key terms: "neurofibromatosis type 1", "Von Recklinghausen's disease", "children", "adolescents", "stroke", "Moyamoya disease", "vascular diseases", "cerebrovascular disorders", "aneurysm" and "congenital abnormalities". Studies focused on assessing the development of CVD in children with NF-1 were included. RESULTS: Seven studies met the inclusion criteria. Twelve different clinical manifestations have been associated with cerebrovascular changes in children with NF-1; 44,5% of diagnosed patients were asymptomatic. CONCLUSION: The available evidence suggests that CVDs are related with the progression of NF-1, even in the absence of a clear clinical manifestation. In addition, improved prognosis was observed when imaging tests were performed to screen for cerebrovascular alterations early during the clinical investigation. Early diagnosis of CVD in NF-1patients foster implementation of timely interventions, directly impacting clinical outcomes.
Authors: Juliana Ferreira de Souza; Luana Lopes de Toledo; Maria Clara Magni Ferreira; Luiz Oswaldo Carneiro Rodrigues; Nilton Alves de Rezende Journal: Rev Assoc Med Bras (1992) Date: 2009 Jul-Aug Impact factor: 1.209
Authors: Bonnie Kaas; Thierry A G M Huisman; Aylin Tekes; Amanda Bergner; Jaishri O Blakeley; Lori C Jordan Journal: J Child Neurol Date: 2012-07-25 Impact factor: 1.987