Venous aneurysm, arterial dysplasia, and near-fatal hemorrhages in neurofibromatosis type 1

Nopajaroonsri, Charn; Lurie, A.

doi:10.1016/s0046-8177(96)90229-4

Cited by 71 publications

(65 citation statements)

References 18 publications

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“…Either vessels within the neurofibroma are anomalous or a neurofibroma compresses or infiltrates adjacent blood vessels. 2,6 The aneurysms in our patient's neck were surrounded by plexiform neurofibromas, suggesting that some vascular wall weakening may have been due to compression and/or infiltration. However, recent work in genetics and molecular biology strongly suggests that most vascular lesions in patients with NF-1 are due to decreased expression of the gene product neurofibromin.…”

Section: Discussionmentioning

confidence: 72%

“…1,2 Although NF-1 is defined by neurocutaneous findings, severe abnormalities of bone, 1 arteries, 2,3 and veins 4 have been noted. We describe a 28-year-old patient with bilateral giant extracranial aneurysms of the internal carotid arteries (ICAs), skull base meningoceles involving the jugular foramina, and aberrant jugular veins, who was treated successfully: After obtaining detailed imaging studies, we sacrificed her left ICA and used intravascular trapping with MicroCoils (MicroCoil System; Micrus, San Jose, Calif) in the right ICA and an endoluminal stent graft in the right external carotid artery (ECA) to bridge the orifice of the right ICA and exclude internal carotid flow.…”

Section: Discussionmentioning

confidence: 99%

“…Case reports on vascular anomalies have described severe intracranial and extracranial abnormalities involving arteries and occasionally, veins, often in combination and life-threatening in nature. 2,3,[7][8][9][10] Sometimes vascular lesions are clearly related to neurofibromas. Either vessels within the neurofibroma are anomalous or a neurofibroma compresses or infiltrates adjacent blood vessels.…”

Section: Discussionmentioning

confidence: 99%

“…Our patient, a 28-year-old woman, had bilateral giant extracranial aneurysms of the internal carotid arteries as well as skull base meningoceles involving the jugular foramina and aberrant jugular veins. CT and MR imaging, as well as digital subtraction and/or other angiography techniques, may be required to clarify pathology in patients with suggested vascular lesions.T he autosomal dominant mutation underlying neurofibromatosis type 1 (NF-1) has a very high prevalence, affecting 1 in 3000 Americans.1,2 Although NF-1 is defined by neurocutaneous findings, severe abnormalities of bone, 1 arteries, 2,3 and veins 4 have been noted. We describe a 28-year-old patient with bilateral giant extracranial aneurysms of the internal carotid arteries (ICAs), skull base meningoceles involving the jugular foramina, and aberrant jugular veins, who was treated successfully: After obtaining detailed imaging studies, we sacrificed her left ICA and used intravascular trapping with MicroCoils (MicroCoil System; Micrus, San Jose, Calif) in the right ICA and an endoluminal stent graft in the right external carotid artery (ECA) to bridge the orifice of the right ICA and exclude internal carotid flow.…”

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confidence: 99%

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Giant Extracranial Aneurysms of Both Internal Carotid Arteries with Aberrant Jugular Veins in a Patient with Neurofibromatosis Type 1

Ku¹,

Chen²,

Chen³

et al. 2008

AJNR Am J Neuroradiol

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SUMMARY:Although neurofibromatosis type 1 (NF-1) is commonly considered neurocutaneous, severe arterial and venous abnormalities have been noted. Our patient, a 28-year-old woman, had bilateral giant extracranial aneurysms of the internal carotid arteries as well as skull base meningoceles involving the jugular foramina and aberrant jugular veins. CT and MR imaging, as well as digital subtraction and/or other angiography techniques, may be required to clarify pathology in patients with suggested vascular lesions.T he autosomal dominant mutation underlying neurofibromatosis type 1 (NF-1) has a very high prevalence, affecting 1 in 3000 Americans.1,2 Although NF-1 is defined by neurocutaneous findings, severe abnormalities of bone, 1 arteries, 2,3 and veins 4 have been noted. We describe a 28-year-old patient with bilateral giant extracranial aneurysms of the internal carotid arteries (ICAs), skull base meningoceles involving the jugular foramina, and aberrant jugular veins, who was treated successfully: After obtaining detailed imaging studies, we sacrificed her left ICA and used intravascular trapping with MicroCoils (MicroCoil System; Micrus, San Jose, Calif) in the right ICA and an endoluminal stent graft in the right external carotid artery (ECA) to bridge the orifice of the right ICA and exclude internal carotid flow. We discuss the pathogenesis of this multisystem disease to emphasize the importance of using MR imaging and CT techniques to clarify the lesions present in patients with suggested vascular abnormalities. Case ReportA 28-year-old woman with skin hyperpigmentation, multiple softtissue masses bilaterally at the neck, and multiple café-au-lait spots on the trunk since 3 years of age was diagnosed with NF-1. Her bilateral neck plexiform neurofibromas had grown slowly and were accompanied by cervical neuralgia. Progressive dysarthria and dysphagia and minimal right hemiparesis had also developed. Two years previously, the patient had experienced a large left middle cerebral artery (MCA) infarction.At admission, 2 large masses with bruit were noted bilaterally at the upper neck. Neurologic examination revealed dysfunction of cranial nerves IX-XII, with symptoms including dysphagia, dysarthria, hoarseness, and weakness of the left trapezius muscle. In addition, tongue deviation to the left on protrusion and right lower extremity spasticity were noted; these were considered sequelae of the infarction.MR imaging confirmed the large left MCA infarct near the left lateral ventricle and revealed recent infarcts in the left cerebral hemisphere, a giant aneurysm of the left cervical ICA (4 ϫ 5 cm in the transverse plane, 8 cm long) with mural thrombus, and another infarct of the right cervical ICA (3 ϫ 4 cm in the transverse plane, 5 cm long) (Fig 1), as well as infiltrative plexiform neurofibromas in the neck extending between the muscles of the left shoulder. A short stenotic segment of the right extracranial ICA was observed above the aneurysm tip. CT angiography was performed when the patient developed tac...

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Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Giant Extracranial Aneurysms of Both Internal Carotid Arteries with Aberrant Jugular Veins in a Patient with Neurofibromatosis Type 1

Ku¹,

Chen²,

Chen³

et al. 2008

AJNR Am J Neuroradiol

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“…Although lifethreatening intratumoural haemorrhage in neurofibromas is uncommon, it has been reported [3][4][5][6][7][8][9]. It is postulated that these haemorrhages are caused by rupture of friable vasculature secondary to arterial dysplasia or vascular invasion by the neurofibroma [9,10].…”

Section: Discussionmentioning

confidence: 99%

Intravascular embolisation and surgical resection of a giant neurofibroma with intratumoural haemorrhage

Jones¹,

Kiatisevi²,

Morris³

et al. 2010

BJR

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ABSTRACT. The use of pre-operative embolisation has been described for small neurofibromas, but not for giant lesions. Advances in embolisation techniques are extending the indications for this procedure, in particular to assist with operative intervention on a range of lesions. This case report describes a 45-year-old male with a giant neurofibroma who underwent embolisation to stabilise intratumoural haemorrhage and to assist with haemostasis during the subsequent surgical resection. Minimal transfusion was required and the patient has made a good recovery. This case demonstrates that pre-operative embolisation of these large and challenging lesions is technically feasible and appears to be beneficial in reducing perioperative blood loss and morbidity. Neurofibromas are common benign soft-tissue tumours arising within peripheral nerves. Solitary neurofibromas are more common, whereas multiple neurofibromas are often associated with neurofibromatosis type 1 (NF-1) [1]. Plexiform neurofibromas rarely grow to be larger than 5 cm; however, giant neurofibromas can occur and are commonly associated with NF-1. Neurofibromas are difficult to manage surgically as they are extensively infiltrative and highly vascular. Complications of neurofibromas are rare, but include malignant change and potentially life-threatening haemorrhage [2].We report a case of haemorrhage into a giant plexiform neurofibroma of the lower back and buttock causing hypovolaemic shock. This was subsequently managed with intravascular embolisation followed by surgical resection, demonstrating that this technique is technically feasible and should be considered for these lesions. Case reportAn otherwise well 45-year-old Caucasian man presented with bleeding from a solitary large mass over the posterior aspect of his right buttock and lumbar region. Although he initially denied it, he later revealed the mass had been present for over 10 years and had gradually enlarged during this time. Recently, the lesion had increased in size rather rapidly and suffered an overlying skin breakdown. He was bleeding from the surface of the lesion and became hypotensive with some renal impairment, which later recovered. He received a transfusion of 12 units of blood during stabilisation prior to transfer to our centre.Upon arriving at our centre, examination revealed a large, tender, soft mass measuring 70 6 50 6 20 cm extending from the thoracolumbar region to the gluteal fold and overhanging the posterior aspect of his thigh. A large café-au-lait spot covered the lesion (Figure 1). He was haemodynamically stable and the lesion was no longer bleeding from the surface.A CT scan revealed a large soft-tissue mass arising from the subcutaneous tissues of the lower back and extending outside of the available field of view. Loss of fat planes between the mass and the erector spinae muscle was suggestive of possible deep muscular invasion (Figure 2a).MRI was technically difficult and limited by motion artefact; much of the gluteal mass was not included on the field of view...

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Hemarthrosis: An unusual complication of type 1 neurofibromatosis

Richette¹,

Claudepierre²,

Voisin³

et al. 2001

Arthritis & Rheumatism

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Venous aneurysm, arterial dysplasia, and near-fatal hemorrhages in neurofibromatosis type 1

Cited by 71 publications

References 18 publications

Giant Extracranial Aneurysms of Both Internal Carotid Arteries with Aberrant Jugular Veins in a Patient with Neurofibromatosis Type 1

Giant Extracranial Aneurysms of Both Internal Carotid Arteries with Aberrant Jugular Veins in a Patient with Neurofibromatosis Type 1

Intravascular embolisation and surgical resection of a giant neurofibroma with intratumoural haemorrhage

Hemarthrosis: An unusual complication of type 1 neurofibromatosis

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