Vascular abnormalities in patients with neurofibromatosis syndrome type I: Clinical spectrum, management, and results

Oderich, Gustavo S.; Sullivan, Timothy M.; Bower, Thomas C.; Gloviczki, Péter; Miller, Dylan V.; Babovic-Vuksanovic, Dudica; Macedo, Thanila A.; Stanson, Anthony W.

doi:10.1016/j.jvs.2007.03.055

Cited by 336 publications

(410 citation statements)

References 35 publications

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“…Though vascular involvement is common (most common being renal artery stenosis), visceral artery aneurysms are relatively rare. 7,8 CONCLUSION Author experienced a rare case of ruptured IMA aneurysm in a patient with NF-1. In a stable patient, angioembolization may be considered as a definitive management.…”

Section: Discussionmentioning

confidence: 95%

Ruptured inferior mesenteric artery aneurysm in a patient with neurofibromatosis type I and its management

Sheth¹,

Kansakar²,

Agarwal³

et al. 2018

Int Surg J

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Inferior mesenteric artery aneurysm is very rare and are usually asymptomatic. A high mortality is associated with aneurysmal rupture. The purpose of this paper is to report occurrence of a rare disease and its treatment options. A 64 years old woman presented with complaints of lower abdominal pain radiating to back for 1month, with non-passage of stools for 5days, and had decreased appetite. She had features of Neurofibromatosis type I. On examination, she had tachycardia and had pallor, and abdominal examination showed lumps in right and left iliac fossa which progressively increased in size. Computed tomography scan showed features of leaking inferior mesenteric artery aneurysm with perianeurysmal hematoma. The patient was taken up for surgical exploration wherein after checking the bowel viability, the inferior mesenteric artery was clipped at its origin, ligated and divided followed by hematoma evacuation. Post-operative stay was uneventful, and the patient was discharged on post-operative day 10.

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Section: Discussionmentioning

confidence: 95%

Ruptured inferior mesenteric artery aneurysm in a patient with neurofibromatosis type I and its management

Sheth¹,

Kansakar²,

Agarwal³

et al. 2018

Int Surg J

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“…Vasculopathy is an important cause of death in younger age groups 6 and it is an important cause of sudden death in asymptomatic patients 9 , caused mainly by vascular fibromuscular dysplasia and malformations 10 rather than atherosclerotic related conditions 11 .…”

Section: Mortality and Associated Conditionsmentioning

confidence: 99%

“…Spinal neurofibromas present a risk of malignant transformation into MPNST. So far, there is no specific treatment for spinal neurofibromas and they are usually surgically managed, when it is necessary and possible 10 .…”

Section: Nf1 Related Tumorsmentioning

confidence: 99%

Neurofibromatosis: part 2 – clinical management

Batista

Goloni-Bertollo

Costa

et al. 2015

Arq. Neuro-Psiquiatr.

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Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.Keywords: neurofibromatosis, neurofibromatosis type 1, neurofibromatosis type 2, schwannomatosis, Legius syndrome. resumo A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.Palavras-chave: neurofibromatoses, neurofibromatose 1, neurofibromatose 2, schwannomatose, síndrome de Legius. 532Arq Neuropsiquiatr 2015;73(6): [531][532][533][534][535][536][537][538][539][540][541][542][543] Part 1 of this guideline addressed differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH) 1 . This second part aims to offer some practical suggestions on the clinical management of NF.NF shares some features, such as the genetic origin of the neural tumors, cutaneous manifestations, heterogeneous phenotype and unpredictable and usually progressive natural course. However, they differ in age of onset, progression of the symptoms and prognosis. Moreover, NF clinical presentation and severity vary among patients and even between twins carrying the same NF gene mutation 2 . The wide range of NF clinical manifestations and the difficulties to predict the onset or the severity of new features, consequences, o...

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“…The frequency of vascular lesions in NF1 patients is hard to define because screening studies are not routinely performed, but the prevalence of vascular lesions in large series is 0.4% to 6.4%. 3,4,11,14) Renal artery lesions are most common (41%) and are more often stenotic than aneurysmal, but carotid artery, vertebral artery (VA), and cerebral artery aneurysms, reported in 46 patients, occur in the third decade of life and are more common in women. The renal artery is most frequently involved, resulting in renovascular hypertension.…”

Section: Introductionmentioning

confidence: 99%

“…The renal artery is most frequently involved, resulting in renovascular hypertension. 14,20) However, extracranial VA aneurysm is rarely associated with neurofibromatosis. 1,2,5,6,[8][9][10]12,13,[15][16][17][18][19][20] We report a case of ruptured extracranial VA aneurysm in a patient with NF1 treated successfully by endovascular embolization.…”

Section: Introductionmentioning

confidence: 99%

Ruptured Extracranial Vertebral Artery Aneurysm Associated With Neurofibromatosis Type 1

Hiramatsu

Matsui

Yamashita

et al. 2012

Neurol. Med. Chir.(Tokyo)

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A 31-year-old man presented with a ruptured right extracranial vertebral artery aneurysm associated with neurofibromatosis type 1, manifesting as acute onset of right neck and shoulder pain, and right supraclavicular mass. Three-dimensional computed tomography angiography showed a large aneurysm involving the right extracranial vertebral artery associated with a pseudoaneurysm. The aneurysm was successfully treated by transarterial endovascular trapping with detachable coils. Extracranial vertebral artery aneurysm is rare, but the mortality of ruptured cases is extremely high, so early diagnosis and early treatment are important. The present case shows that endovascular treatment was very effective.

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Vascular abnormalities in patients with neurofibromatosis syndrome type I: Clinical spectrum, management, and results

Abstract: Patients with NF-I have a wide spectrum of vascular abnormalities, most notably aneurysms or stenoses of the aortic, renal, and mesenteric circulation. Operative treatment of symptomatic patients with vascular lesions or large aneurysms is safe, effective, and durable.

Cited by 336 publications

References 35 publications

Ruptured inferior mesenteric artery aneurysm in a patient with neurofibromatosis type I and its management

Ruptured inferior mesenteric artery aneurysm in a patient with neurofibromatosis type I and its management

Neurofibromatosis: part 2 – clinical management

Ruptured Extracranial Vertebral Artery Aneurysm Associated With Neurofibromatosis Type 1

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