| dc.creator | Duarte, Beatriz Barreto | |
| dc.creator | Gomes, Fabiana H. Andrade | |
| dc.creator | rriaga, Marıa B. A | |
| dc.creator | Pereira, Mariana Araújo | |
| dc.creator | Cubillos-Angulo, Juan Manuel | |
| dc.creator | Andrade, Bruno de Bezerril | |
| dc.date | 2021-03-08T13:39:40Z | |
| dc.date | 2021-03-08T13:39:40Z | |
| dc.date | 2021 | |
| dc.date.accessioned | 2023-09-26T21:00:07Z | |
| dc.date.available | 2023-09-26T21:00:07Z | |
| dc.identifier | DUARTE, Beatriz Barreto et al. Association between neurofibromatosis type 1 and cerebrovascular diseases in children: A systematic review. Plos One, 2021. | |
| dc.identifier | 1932-6203 | |
| dc.identifier | https://www.arca.fiocruz.br/handle/icict/46294 | |
| dc.identifier | 10.1371/ journal.pone.0241096 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8867524 | |
| dc.description | Conselho Nacional de Desenvolvimento Cientı´fico e
Tecnolo´gico (CNPq). B.B-D received a research
fellowship from the Coordenac¸ão de
Aperfeic¸oamento de Pessoal de Nı´vel Superior
(CAPES, finance code: 001). M.B.A received a fellowship from the Fundac¸ão de Amparo à
Pesquisa da Bahia (FAPESB). MAP received a
fellowship from the Coordenac¸ão de
Aperfeic¸oamento de Pessoal de Nı´vel Superior
(CAPES). J.M.C-A was supported by the
Organization of American States - Partner-ships
Program for Education and Training (OAS-PAEC)
and his study was financed in part by the
Coordenac¸ão de Aperfeic¸oamento de Pessoal de
Nı´vel Superior - Brazil (CAPES) - Finance Code 001. | |
| dc.description | 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. 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. | |
| dc.format | application/pdf | |
| dc.language | eng | |
| dc.publisher | Public Library of Science | |
| dc.rights | open access | |
| dc.subject | Neurofibromatoses | |
| dc.subject | Criança | |
| dc.subject | Acidente Vascular Cerebral | |
| dc.subject | Revisão Sistemática | |
| dc.subject | Transtornos Cerebrovasculares | |
| dc.subject | Neurofibromatosis | |
| dc.subject | Children | |
| dc.subject | Stroke | |
| dc.subject | Systematic review | |
| dc.subject | Cerebrovascular Disorders | |
| dc.title | Association between neurofibromatosis type 1 and cerebrovascular diseases in children: A systematic review | |
| dc.type | Article | |
