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CC BY-NC-ND 4.0 · Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery 2021; 40(01): 107-112
DOI: 10.1055/s-0040-1722244
Case Report | Relato de Caso

Deep Vein Thrombosis in the Setting of Neurofibromatosis Type 1: Case Report

Trombose venosa profunda em neurofibromatose tipo 1: Relato de caso
Fernando Guedes 
1   Department of Surgery, Division of Neurosurgery, Hospital Universitário Gaffrée e Guinle, Escola de Medicina e Cirurgia, Universidade Federal do Estado do Rio de Janeiro (Unirio), Rio de Janeiro, Brazil
,
Francisco Torrão 
1   Department of Surgery, Division of Neurosurgery, Hospital Universitário Gaffrée e Guinle, Escola de Medicina e Cirurgia, Universidade Federal do Estado do Rio de Janeiro (Unirio), Rio de Janeiro, Brazil
,
Gabriel E. Sanches 
1   Department of Surgery, Division of Neurosurgery, Hospital Universitário Gaffrée e Guinle, Escola de Medicina e Cirurgia, Universidade Federal do Estado do Rio de Janeiro (Unirio), Rio de Janeiro, Brazil
,
Ana Caroline Siquara-de-Sousa 
2   Department of Pathology, Hospital Universitário Antônio Pedro, Faculdade de Medicina, Universidade Federal Fluminense (UFF), Niterói, Brazil
,
Arno von Ristow 
3   Vascular and Endovascular Surgery, Pontifícia Universidade Católica do Rio de Janeiro, (PUC-Rio), Rio de Janeiro, Brazil
,
Paulo Niemeyer Filho
4   Department of Neurosurgery, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Brazil
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Abstract

Neurofibromatosis type 1 (NF1) is a genetic syndrome which typically presents with neurological manifestations. Some of the patients may also present with vasculopathies, among which arterial aneurysms and stenosis are the most common. Deep vein thrombosis (DVT) has rarely been described, and, to the best of our knowledge, the present is the first report of DVT due to venous compression by a neurofibroma in the setting of NF1.

This is the case of a 23-year-old male with NF1 who experienced DVT due to compression of the left posterior tibial veins by a large tumor arising from the tibial nerve. The DVT was acutely treated with enoxaparin and then with rivaroxaban. Two months after the diagnosis, Doppler ultrasonography showed partial recanalization and persistence of the DVT. The patient was then referred to neurosurgery for surgical resection of the tumor. There were no complications during the procedure, and the patient did not present postoperative neurological deficits. The final histopathological diagnosis was of a benign neurofibroma. After one year of follow-up with vascular surgery, the patient presented no more episodes of DVT.

In case there is a tumor compressing the deep vessels of the leg and promoting DVT, surgical resection with microsurgical techniques may be curative.

Resumo

A neurofibromatose tipo 1 (NF1) é uma síndrome genética classicamente associada a manifestações neurológicas. Contudo, alguns dos pacientes apresentam também manifestações vasculares, dentre as quais aneurismas e estenoses arteriais são as mais comuns. Trombose venosa profunda (TVP) associada a NF1 raramente foi descrita, e, pelo que sabemos, este é o primeiro relato de TVP devido a compressão venosa por neurofibroma no contexto de NF1.

Este é o caso de um paciente masculino de 23 anos, com NF1, que apresentou um episódio de TVP devido a compressão das veias tibiais posteriores esquerdas por um grande neurofibroma que surgia do nervo tibial. A TVP foi tratada de forma aguda, com enoxaparina e rivaroxabana. Dois meses após o diagnóstico, a ultrassonografia com Doppler demonstrou recanalização parcial com persistência da TVP. O paciente foi então referido à neurocirurgia para ressecção da massa. Não houve complicações devido ao procedimento, e o paciente não apresentou déficits neurológicos. O diagnóstico histopatológico final foi de um neurofibroma. Após um ano de seguimento com a cirurgia vascular, o paciente não apresentou mais episódios de TVP.

Caso haja um tumor comprimindo os vasos profundos da perna e promovendo TVP, a ressecção cirúrgica com técnicas microcirúrgicas pode ser curativa.

Keywords

neurofibromatosis 1 - neurofibroma - venous thrombosis

Palavras-chave

neurofibromatose 1 - neurofibroma - trombose venosa


Publication History

Received: 19 August 2020

Accepted: 16 November 2020

Article published online:
18 January 2021

© 2021. Sociedade Brasileira de Neurocirurgia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Rosenbaum T, Wimmer K. Neurofibromatosis type 1 (NF1) and associated tumors. Klin Padiatr 2014; 226 (6-7): 309-315
    Article in Thieme ConnectPubMedGoogle Scholar
  • 2 Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet 1999; 89 (01) 1-6
    CrossrefPubMedGoogle Scholar
  • 3 Uusitalo E, Leppävirta J, Koffert A. et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol 2015; 135 (03) 904-906
    CrossrefPubMedGoogle Scholar
  • 4 Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014; 13 (08) 834-843
    CrossrefPubMedGoogle Scholar
  • 5 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers 2017; 3 (01) 17004
    CrossrefPubMedGoogle Scholar
  • 6 Oderich GS, Sullivan TM, Bower TC. et al. Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg 2007; 46 (03) 475-484
    CrossrefPubMedGoogle Scholar
  • 7 Friedman JM, Arbiser J, Epstein JA. et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med 2002; 4 (03) 105-111
    CrossrefPubMedGoogle Scholar
  • 8 Lehrnbecher T, Gassel AM, Rauh V, Kirchner T, Huppertz HI. Neurofibromatosis presenting as a severe systemic vasculopathy. Eur J Pediatr 1994; 153 (02) 107-109
    CrossrefPubMedGoogle Scholar
  • 9 Belcastro M, Palleschi A, Trovato RA, Landini R, Di Bisceglie M, Natale A. A rare case of internal jugular vein aneurysmal degeneration in a type 1 neurofibromatosis complicated by potentially life-threatening thrombosis. J Vasc Surg 2011; 54 (04) 1170-1173
    CrossrefPubMedGoogle Scholar
  • 10 Kwiatkowska W, Ferenc S, Romaszkiewicz P. et al. Deep vein thrombosis caused by an exostosis in an adolescent patient with peripheral neurofibromatosis type 1. Vasa 2015; 44 (03) 233-236
    CrossrefPubMedGoogle Scholar
  • 11 Dova S, Ktenidis K, Karkos P. et al. A rare case of a spontaneous neck hematoma in a patient with type 1 neurofibromatosis. Auris Nasus Larynx 2016; 43 (05) 591-594
    CrossrefPubMedGoogle Scholar
  • 12 Seinturier C, Blaise S, Thony F, Magne JL, Pernod G. A Femoral Common Vein Aneurysm in a Patient with Neurofibromatosis Syndrome Type 1. Ann Vasc Surg 2017; 40: 299.e7-299.e9
    CrossrefPubMedGoogle Scholar
  • 13 Mori F, Kawai M, Sato E, Igarishi S, Hikichi T, Yoshida A. Branch retinal vein occlusion in a Japanese patient with neurofibromatosis 1. Jpn J Ophthalmol 2001; 45 (06) 634-635
    CrossrefPubMedGoogle Scholar
  • 14 Nopajaroonsri C, Lurie AA. Venous aneurysm, arterial dysplasia, and near-fatal hemorrhages in neurofibromatosis type 1. Hum Pathol 1996; 27 (09) 982-985
    CrossrefPubMedGoogle Scholar
  • 15 Hiraki T, Higashi M, Goto Y. et al. A rare case of internal jugular vein aneurysm with massive hemorrhage in neurofibromatosis type 1. Cardiovasc Pathol 2014; 23 (04) 244-247
    CrossrefPubMedGoogle Scholar
  • 16 Valdivia AR, Gandarias C. Neck Swelling in a Type 1 Neurofibromatosis Patient. Eur J Vasc Endovasc Surg 2019; 58 (03) 414
    CrossrefPubMedGoogle Scholar
  • 17 Imahori T, Fujita A, Hosoda K, Kohmura E. Endovascular Internal Trapping of Ruptured Occipital Artery Pseudoaneurysm Associated with Occipital-Internal Jugular Vein Fistula in Neurofibromatosis Type 1. J Stroke Cerebrovasc Dis 2016; 25 (05) 1284-1287
    CrossrefPubMedGoogle Scholar
  • 18 Bartline PB, McKellar SH, Kinikini DV. Resection of a Large Innominate Vein Aneurysm in a Patient with Neurofibromatosis Type 1. Ann Vasc Surg 2016; 30: 157.e1-157.e5
    CrossrefPubMedGoogle Scholar
  • 19 Jun YJ, Kim JM, Kim JA, Lee JH, Kim SM, Kim YJ. Venous malformation associated with type 1 neurofibromatosis: a case report. ANZ J Surg 2017; 87 (11) 945-946
    CrossrefPubMedGoogle Scholar
  • 20 De Caridi G, Massara M, Spinelli F. Uncommon case of symptomatic left renal vein compression caused by neurofibroma. Asian Cardiovasc Thorac Ann 2016; 24 (05) 492-492
    CrossrefPubMedGoogle Scholar
  • 21 Ku Y-K, Chen H-W, Chen H-W, Fu C-J, Chin S-C, Liu Y-C. Giant extracranial aneurysms of both internal carotid arteries with aberrant jugular veins in a patient with neurofibromatosis type 1. AJNR Am J Neuroradiol 2008; 29 (09) 1750-1752
    CrossrefPubMedGoogle Scholar
  • 22 Hinsch N, Kriener S, Ritter R-G, Holzer K. Fatal haemorrhage due to extensive fragility of medium- and large-sized arteries and veins in a young patient with neurofibromatosis 1. Cardiovasc Pathol 2008; 17 (02) 108-112
    CrossrefPubMedGoogle Scholar
  • 23 Zaret CR, Choromokos EA, Meisler DM. Cilio-optic vein associated with phakomatosis. Ophthalmology 1980; 87 (04) 330-336
    CrossrefPubMedGoogle Scholar
  • 24 Wasa J, Nishida Y, Tsukushi S. et al. MRI features in the differentiation of malignant peripheral nerve sheath tumors and neurofibromas. AJR Am J Roentgenol 2010; 194 (06) 1568-1574
    CrossrefPubMedGoogle Scholar
  • 25 Ahlawat S, Blakeley JO, Rodriguez FJ, Fayad LM. Imaging biomarkers for malignant peripheral nerve sheath tumors in neurofibromatosis type 1. Neurology 2019; 93 (11) e1076-e1084
    CrossrefPubMedGoogle Scholar
  • 26 Kaas B, Huisman TAGM, Tekes A, Bergner A, Blakeley JO, Jordan LC. Spectrum and prevalence of vasculopathy in pediatric neurofibromatosis type 1. J Child Neurol 2013; 28 (05) 561-569
    CrossrefPubMedGoogle Scholar
  • 27 Lin AE, Birch PH, Korf BR. et al. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet 2000; 95 (02) 108-117
    CrossrefPubMedGoogle Scholar
  • 28 Bajaj A, Li Q, Zheng Q, Pumiglia K. Loss of NF1 Expression in Human Endothelial Cells Promotes Autonomous Proliferation and Altered Vascular Morphogenesis. Pizzo SV, editor. PLoS One 2012; 7 (11) e49222
    CrossrefPubMedGoogle Scholar
  • 29 Lasater EA, Li F, Bessler WK. et al. Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans. J Clin Invest 2010; 120 (03) 859-870
    CrossrefPubMedGoogle Scholar
  • 30 Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 2001; 68 (05) 1110-1118
    CrossrefPubMedGoogle Scholar
  • 31 Delvecchio K, Moghul F, Patel B, Seman S. Surgical resection of rare internal jugular vein aneurysm in neurofibromatosis type 1. World J Clin Cases 2017; 5 (12) 419-422
    CrossrefPubMedGoogle Scholar
  • 32 Blann AD. How a damaged blood vessel wall contibutes to thrombosis and hypertenasion. Pathophysiol Haemost Thromb 2003; 33 (5-6): 445-448
    CrossrefPubMedGoogle Scholar
  • 33 Mackman N. New insights into the mechanisms of venous thrombosis. J Clin Invest 2012; 122 (07) 2331-2336
    CrossrefPubMedGoogle Scholar
  • 34 Poredos P, Jezovnik MK. Endothelial Dysfunction and Venous Thrombosis. Angiology 2018; 69 (07) 564-567
    CrossrefPubMedGoogle Scholar
  • 35 Wang M, Hao H, Leeper NJ, Zhu L. Early Career Committee. Thrombotic Regulation From the Endothelial Cell Perspectives. Arterioscler Thromb Vasc Biol 2018; 38 (06) e90-e95 https://www.ahajournals.org/doi/10.1161/atvbaha.118.310367 [Internet]
    CrossrefPubMedGoogle Scholar
  • 36 Chahlaoui J, Julien M, Nadeau P, Bruneau L, Roy P, Sylvestre J. Popliteal venous aneurysm: a source of pulmonary embolism. AJR Am J Roentgenol 1981; 136 (02) 415-416
    CrossrefPubMedGoogle Scholar
  • 37 Calligaro KD, Ahmad S, Dandora R. et al. Venous aneurysms: surgical indications and review of the literature. Surgery 1995; 117 (01) 1-6
    CrossrefPubMedGoogle Scholar
  • 38 Gillespie DL, Villavicencio JL, Gallagher C. et al. Presentation and management of venous aneurysms. J Vasc Surg 1997; 26 (05) 845-852
    CrossrefPubMedGoogle Scholar
  • 39 Esmon CT. Basic mechanisms and pathogenesis of venous thrombosis. Blood Rev 2009; 23 (05) 225-229
    CrossrefPubMedGoogle Scholar
  • 40 Liaw C-C, Chang H, Yang T-S, Wen M-S. Pulmonary Venous Obstruction in Cancer Patients. J Oncol 2015; 2015: 210916
    PubMedGoogle Scholar
  • 41 Liao T-Y, Hsu H-C, Wen M-S, Juan Y-H, Hung Y-H, Liaw C-C. Iliofemoral Venous Thrombosis Mainly Related to Iliofemoral Venous Obstruction by External Tumor Compression in Cancer Patients. Case Rep Oncol 2016; 9 (03) 760-771
    CrossrefPubMedGoogle Scholar
  • 42 Friedman T, Quencer KB, Kishore SA, Winokur RS, Madoff DC. Malignant Venous Obstruction: Superior Vena Cava Syndrome and Beyond. Semin Intervent Radiol 2017; 34 (04) 398-408
    Article in Thieme ConnectPubMedGoogle Scholar
  • 43 Ottinger H, Belka C, Kozole G. et al. Deep venous thrombosis and pulmonary artery embolism in high-grade non Hodgkin's lymphoma: incidence, causes and prognostic relevance. Eur J Haematol 1995; 54 (03) 186-194
    CrossrefPubMedGoogle Scholar