Neurofibromatosis-T1 with arteriovenous malformation and aneurysms in rapidly growing tumor mass diagnosed by angiothomograghy

Authors

Abstract

Introduction: Neurofibromatosis-type 1 is a chromosome 17 mutation induced disease. Some clinical manifestations include skin nodules, cafe au lait spots, Lisch nodules, skeletal manifestations, and cognitive deficiency. The condition can be accompanied by vascular complications; more frequent occlusion types, and less frequent hemorrhagic with arteriovenous malformation (AVM), fistulas, and aneurysms.
Objective:
To present a new case of NF1 with a mass of rapid growth in the posterior cranial-cervical region with AVM, giant arterial and venous aneurysms diagnosed by multi-slice angiotomography.
Clinical case:
A female patient of 52 years of age with a history of hypertension and (NF1) comes with a tumoral mass of 15 cm, approximately 20 days of progress. The mass is situated in the posterior left cranial-cervical region that relates to mild traumatic, soft, and painful to palpation lesion, accompanied by amaurosis, cephalalgia, left facial paralysis, and transitory loss of consciousness. Multi-slice angiotomography revealed a high left vertebral arteriovenous malformation, featuring a 3 cm arteriovenous fistula with a giant venous aneurysm in the posterior occipital region. Additionally, it showed a fusiform aneurysm of the left intracranial vertebral artery and another 2 cm extracranial paravertebral aneurysm on the same side at the C1-C2 level. Surgical or interventional treatment was considered, but taking into account the patient's general condition, it was decided to follow up with symptomatic treatment.
Conclusions:
In cases of rapidly growing tumor mass in patients with neurofibromatosis or plexiform neurofibroma, especially with a history of minor trauma, the possibility of vascular malformations should be excluded. Multi-slice angiotomography is a simple technique that can provide valuable information.
DeCS: NEUROFIBROMATOSIS 1; SKULL; ANEURYSM; ARTERIOVENOUS FISTULA; NEUROFIBROMA, PLEXIFORM.

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Author Biography

Cristina de la Caridad Rivero-García, Universidad de Ciencias Médicas. Hospital Universitario Manuel Ascunce Domenech. Servicio de Imagenología. Camagüey, Cuba.

Especialista 2do grado en Radiiología

Profesora Auxiliar Consultante

Hospital Universitario ¨Manuel ascunce D.¨  Camaguey. Cuba

References

1. Mayo Clínic [Internet]. Rochester: Mayo Clinic; © 1998-2024 [updated 2024]; [citado 21 Jun 2024]. Neurofibromatosis. Síntomas y causas. Descripción general. Disponible en: https://www.mayoclinic.org/es/diseases-conditions/neurofibromatosis-type-1/symptoms-causes/syc-20350490

2. Duat Rodríguez A. Neurofibromatosis tipo 1. Pediatr Integral [Internet]. 2020 [citado 17 Jun 2024]; XXIV(6): 334–341. Disponible en: https://www.pediatriaintegral.es/wp-content/uploads/2020/xxiv06/05/n6-334-341_AnnaDuat.pdf

3. Mayo Clínic [Internet]. Rochester: Mayo Clinic; © 1998-2024 [updated 2024]; [citado 21 Jun 2024]. Neurofibromatosis. Diagnóstico y tratamiento. Disponible en: https://www.mayoclinic.org/es/diseases-conditions/neurofibromatosis-type-1/diagnosis-treatment/drc-20350495

4. Lavell A, Jones CW, Wong D, Counsel P, Carey-Smith R. Plexiform neurofibroma causing an ossifying subperiosteal haematoma: a rare case in the tibia of an 11-year-old girl. Skeletal Radiol [Internet]. 2017 [citado 21 Jun 2024]; 46(10): 1405-1413. Disponible en: https://pubmed.ncbi.nlm.nih.gov/28623408/https://link.springer.com/article/10.1007/s00256-017-2689-3

5. Orraca Castillo M, Licourt Otero D. Características del neurofibroma plexiforme en pacientes con neurofibromatosis tipo 1. Rev cienc méd Pinar Río [Internet]. 2012 [citado 17 Ene 2024]; 16(4): 25-35. Disponible en: http://scielo.sld.cu/pdf/rpr/v16n4/rpr04412.pdf

6. Simal-Antuña M, Fernández –Fernández C, Larrosa-Campo D. Patología neurovascular en el paciente con neurofibromatosis de tipo 1. A propósito de un caso. Rev Neurol [Internet]. 2024 [citado 17 Ene 2024]; 79(4): 115–118. Disponible en: https://pmc.ncbi.nlm.nih.gov/articles/PMC11469116/

7. Niño-Nuván, FC, Gómez-Rueda PA, Lozano-Triana CJ, Quintero EM. Neurofibroma del hipogloso en un niño colombiano. Reporte de caso. Rev Fac Med [Internet]. 2018 [citado 17 Ene 2024]; 66(1): 125-8. Disponible en: https://repositorio.unal.edu.co/bitstream/handle/unal/64976/56914-378895-3-PB.pdf?sequence=1&isAllowed=y

8. Moreno Londono MV, TaKane Imay M, González Gonzalez MC, Koga Nakamura W, Estrada Reyes CE, Islas de la Vega G. Nódulos de Lisch y ultrabiomicroscopia. Rev Mex Oftalmol [Internet]. 2014 [citado 17 Ene 2024]; 88(4). Disponible en:https://www.elsevier.es/es-revista-revista-mexicana-oftalmologia-321-articulo-nodulos-lisch-ultrabiomicroscopia-S0187451914000560

9. Muci-Mendoza R, Ramella M, Fuenmayor-Rivera D. Corkscrew retinal vessels in neurofibromatosis type 1: report of 12 cases. Br J Ophthalmol [Internet]. 2002 [citado 17 Jun 2024]; 86(3): 282-284. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1771041/

10. Una-Marie S, Holmes P, The London NF1 Research Group, Childs L, Roy A, Ferner RE. Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience. Am J Med Genet [Internet]. 2022 [citado 17 Jun 2024]; 188 (10): 3009-3015. Disponible en: https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.62931

11. Brosius SN, Vossough A, Fisher MJ, Lang SS, Beslow LA, George BJ; et al. Characteristics of Moyamoya Syndrome in Pediatric Patients With Neurofibromatosis Type 1. Pediatr Neurol [Internet]. 2022 [citado 17 Jun 2024]; 134: 85-92. Disponible en:

https://pubmed.ncbi.nlm.nih.gov/35849956/https://www.sciencedirect.com/science/article/pii/S0887899422001047?via%3Dihub

12. Younnis M, Nasir M, Malik F, Malik SS, Malik SA. External jugular venous aneurysm: A rare case report. Radiol Case Rep [Internet]. 2024 [citado 17 Jun 2024]; 19(11): 4755-4758. Disponible en: https://pmc.ncbi.nlm.nih.gov/articles/PMC11366925/

13. Ros CA, Agorria BA, Plata JA, Canteli BS. Aneurisma sacular de vena yugular externa trombosada. A propósito de un caso. Rev Esp Cirug Oral y Maxilofac [Internet]. 2020 [citado 17 Ene 2024]; 42(4): 179-181. Disponible en: https://scielo.isciii.es/pdf/maxi/v42n4/2173-9161-maxi-42-04-00179

14. Ardhaoui H, Halily S, Mahtar M. Spontaneous evolution of a massive hematoma caused by type 1 neurofibromatosis: Case report. Int J Surg Case Rep [Internet]. 2020 [citado 17 Jun 2024]; 67: 139–141. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021518/

15. Honar BN, Mirkheshti A, Memary E. Developing Cervical Hematoma Following Jaw Thrust Maneuver Triggered Diagnosis of Neurofibromatosis: A Case Report and Brief Literature Review. Anesth Pain Med [Internet]. 2017 [citado 21 Jun 2024]; 7(3): e41941. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696880/

16. Correa MF, Pasik NI. Neurofibromatosis tipos 1 y 2. Rev Hosp Ital B Aires [Internet]. 2019 [citado 17 Ene 2024]; 39(4): 115-127. Disponible en: https://www1.hospitalitaliano.org.ar/multimedia/archivos/noticias_attachs/47/documentos/109202_115-127-HI5-3-19-Correa-B.pdf

17. Uchida T, Amagasaki K, Hosono A, Nakaguchi H. Neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms: a case report. J Med Case Reports [Internet]. 2021 [citado 17 Jun 2024]; 15: 411. Disponible en: https://jmedicalcasereports.biomedcentral.com/articles /10.1186/s13256-021-02967-3:

18. Vial C, Muse E, Hermida J, Lira L, Pulgar H, Várela C. Neurofibromatosis plexiforme: estudio con RM de dos casos clínicos y revisión de la literatura. Rev chil radiol [Internet]. 2007 [citado 17 Ene 2024]; 13(3). Disponible en:https://www.scielo.cl/scielo.php?script=sci_arttext&pid=S071793082007000300007

19. Macuri Valle M. Malformaciones vasculares cerebrales mediante angiotomografía cerebral en Instituto Nacional de Salud del Niño 2012-2017 [tesis]. Lima: Universidad Nacional Federico Villarreal; 2022. [citado 17 Ene 2024]. Disponible en: https://repositorio.unfv.edu.pe/bitstream/handle/20.500.13084/6015/UNFV_FTM_Macuri_Valle_Mimia_Segunda_especialidad_2022.pdf?sequence=1&isAllowed=y

20. Morita R, Abo D, Soyama T, Yoshino Y, Yoshikawa T, Kimura T; et al. Spontaneous rupture of the pancreatic arcade artery caused by neurofibromatosis type 1 successfully treated using emergency transcatheter arterial embolization, partial intra-aortic balloon occlusion, and stent graft placement: a case report and review of the literature. CVIR Endovasc [Internet]. 2020 [citado 17 Jun 2024]; 3(1): 37. Disponible en: https://pubmed.ncbi.nlm.nih.gov/32715394/

Published

2025-07-08

How to Cite

1.
Rivero-García C de la C, Fernández-Rivero C, Pages-Morales N, Mengana-Chivas B. Neurofibromatosis-T1 with arteriovenous malformation and aneurysms in rapidly growing tumor mass diagnosed by angiothomograghy. Arch méd Camagüey [Internet]. 2025 Jul. 8 [cited 2025 Aug. 4];29:e10501. Available from: https://revistaamc.sld.cu/index.php/amc/article/view/10501

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Case Reports