Venous malformation associated with type 1 neurofibromatosis: a case report

Jun, Young Joon; Kim, Ji Min; Kim, Jean A; Lee, Jung Ho; Kim, Sue Min; Kim, Young Jin

doi:10.1111/ans.13062

Cited by 2 publications

(2 citation statements)

References 7 publications

(27 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…29 Although the manifestations of NF1 vasculopathy are mostly arterial, patients may also present with venous rupture, venous aneurysms, and/or VT. [8][9][10][11][12]31 It has been shown that the absence of NF1 in vitro is sufficient for human venous endothelium cells to undergo autonomous proliferation. 28 This endothelial dysfunction has been extensively implicated in the pathogenesis of VT. [32][33][34][35] In this setting, the venous endothelium also shows altered vascular morphogenesis, which helps to explain the vascular morphological alterations in NF1 patients (that is, stenosis and aneurysms), 6,9,12,14,19,31 some of which may further increase the risk of VT (that is, venous aneurysm). [36][37][38] We have found four reports of NF1 patients presenting with venous aneurysm and an associated VT. Seinturier et al 12 presented a case in which a 64-year-old woman, with NF1, developed pulmonary embolism secondary to a thrombosed venous femoral aneurysm.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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

Guedes

Torrão

Sanches

et al. 2021

Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery

View full text Add to dashboard Cite

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

show abstract

Section: Discussionmentioning

confidence: 99%

“…10 The other 23 articles reported arterial manifestations, vascular malformations, and NF1-associated vascular retinopathy. Some of these cases also presented with venous manifestations, 13,[16][17][18][19][20][21][22][23] yet none with thrombosis.…”

Section: Introductionmentioning

confidence: 99%