Jornal Vascular Brasileiro
https://jvascbras.org/article/doi/10.1590/1677-5449.202201182
Jornal Vascular Brasileiro
Relato de Caso

Neurofibromatosis type 1, fibromuscular dysplasia, and ischemic stroke: an association lost in time? A case report

Neurofibromatose tipo 1, displasia fibromuscular e acidente vascular cerebral isquêmico: uma associação perdida no tempo? Um relato de caso

Igor Oliveira da Fonseca; Gustavo José Luvizutto; Isaac Pantaleão Souza; André Petean Trindade; Carlos Clayton Macedo de Freitas; Rodrigo Bazan; Gabriel Pinheiro Modolo

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Abstract

Abstract: Neurofibromatosis Type 1 (NF1) is a rare cause of ischemic stroke (IS) in the general population. We report a case of a young patient with NF1 in whom IS was caused by fibromuscular dysplasia. An angiographic study demonstrated occlusion in the right internal carotid artery (ICA), just after its origin, and the left ICA, just before the intracranial portion, and brain magnetic resonance imaging showed the limits of an area of brain infarction in the right frontoparietal region. Despite these concomitant neuroimaging findings, this association is rare, and it is difficult to establish the contribution to the outcome made by each of these diseases, which treatment is the best to implement, or what prognosis is.

Keywords

neurofibromatosis type 1, fibromuscular dysplasia, stroke

Resumo

Resumo: A neurofibromatose tipo 1 (NF1) é uma causa rara de acidente vascular cerebral isquêmico (AVCi) na população geral. Neste estudo, relatamos o caso de um paciente jovem com AVCi, com diagnóstico de NF1 associada a displasia fibromuscular. O estudo angiográfico demonstrou oclusão da carótida interna direita, logo após sua origem, e esquerda, antes da porção intracraniana. A ressonância magnética do encéfalo mostrou delimitação de um infarto na região frontoparietal direita. Apesar desses achados concomitantes na neuroimagem, essa associação é rara, sendo difícil de estabelecer a contribuição de cada uma dessas doenças no desfecho, tampouco qual o melhor tratamento a ser implementado e qual o prognóstico.
 

Palavras-chave

neurofibromatose tipo 1, displasia fibromuscular, acidente vascular encefálico

Referências

1 Kim ST, Brinjikji W, Lanzino G, Kallmes D. Neurovascular manifestations of connective-tissue diseases: a review. Interv Neuroradiol. 2016;22(6):624-37. http://dx.doi.org/10.1177/1591019916659262. PMid:27511817.

2 McClatchey AI. Neurofibromatosis. Annu Rev Pathol. 2007;2(1):191-216. http://dx.doi.org/10.1146/annurev.pathol.2.010506.091940. PMid:18039098.

3 Cairns AG, North KN. Cerebrovascular dysplasia in neurofibromatosis type 1. J Neurol Neurosurg Psychiatry. 2008;79(10):1165-70. http://dx.doi.org/10.1136/jnnp.2007.136457. PMid:18469031.

4 Takeshima Y, Kaku Y, Nishi T, Mukasa A, Yamashiro S. Multiple cerebral aneurysms associated with neurofibromatosis type 1. J Stroke Cerebrovasc Dis. 2019;28(7):e83-91. http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2019.04.019. PMid:31080139.

5 Terry AR, Jordan J, Schwamm L, Plotkin S. Increased risk of cerebrovascular disease among patients with neurofibromatosis type 1. Stroke. 2016;47(1):60-5. http://dx.doi.org/10.1161/STROKEAHA.115.011406. PMid:26645253.

6 Hamilton SJ, Friedman JM. Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet. 2000;58(5):341-4. http://dx.doi.org/10.1034/j.1399-0004.2000.580501.x. PMid:11140831.

7 Boot E, Ekker MS, Putaala J, Kittner S, De Leeuw FE, Tuladhar AM. Ischaemic stroke in young adults: a global perspective. J Neurol Neurosurg Psychiatry. 2020;91(4):411-7. http://dx.doi.org/10.1136/jnnp-2019-322424. PMid:32015089.

8 Gorelick MH, Powell CM, Rosenbaum KN, Saal HM, Conry J, Fitz CR. Progressive occlusive cerebrovascular disease in a patient with neurofibromatosis type 1. Clin Pediatr. 1992;31(5):313-5. http://dx.doi.org/10.1177/000992289203100511. PMid:1582101.

9 Barreto-Duarte B, Andrade-Gomes FH, Arriaga MB, Araújo-Pereira M, Cubillos-Angulo JM, Andrade BB. Association between neurofibromatosis type 1 and cerebrovascular diseases in children: a systematic review. PLoS One. 2021;16(1):e0241096. http://dx.doi.org/10.1371/journal.pone.0241096. PMid:33395412.

10 Lummus S, Breeze R, Lucia M, Kleinschmidt-DeMasters B. Histopathologic features of intracranial vascular involvement in fibromuscular dysplasia, ehlers- danlos Type IV, and neurofibromatosis I. J Neuropathol Exp Neurol. 2014;73(10):916-32. http://dx.doi.org/10.1097/NEN.0000000000000113. PMid:25192048.

11 Oderich G, Sullivan T, Bower T, et al. Vascular abnormalities in patients with neurofibromatosis syndrome type I: Clinical spectrum, management, and results. J Vasc Surg. 2007;46(3):475-84. http://dx.doi.org/10.1016/j.jvs.2007.03.055. PMid:17681709.

12 Gornik HL, Persu A, Adlam D, et al. First International Consensus on the diagnosis and management of fibromuscular dysplasia. Vasc Med. 2019;24(2):164-89. http://dx.doi.org/10.1177/1358863X18821816. PMid:30648921.

13 Miyakis S, Lockshin MD, Atsumi T, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost. 2006;4(2):295-306. http://dx.doi.org/10.1111/j.1538-7836.2006.01753.x. PMid:16420554.
 


Submetido em:
29/08/2022

Aceito em:
27/03/2023

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