Spontaneous vascular rupture in neurofibromatosis type I

Clinical History

A nurse with history of neurofibromatosis type I presented with an expanding mass at the right supraclavicular region for 1 day. There was not history of trauma, infection, hypertension, diabetes mellitus or medication. She had multiple Café au lait spots and peripheral cutaneous neurofibromas.

Imaging Findings

Anteroposterior plain cervical spine radiography shows a soft-tissue mass in the right supraclavicular region with displacement of the trachea to the left.
Contrast enhanced axial computed tomography images show a haematoma at the right supraclavicular region with marked displacement of the trachea and other intracervical structures to the left. Note active haemorrhage (arrow in Fig. 2) suggested by contrast extravasation.
Contrast enhanced sagittal image reformation show a extended haematoma at supraclavicular and right neck region. Note contrast extravasation at the thyrocervical trunk (arrow in Fig. 3).

Discussion

Neurofibromatosis type I, also known as von Recklinghausen's disease, is an autosomal dominant genetic disease, a kind of phacomatosis with an incidence of about 1 in 4500 [1]. This disease is characterised by abnormal growth of mesodermal and neuroectodermal derived cells, which means affectation in skin, nervous system (central and peripheric), meninges, skeleton, endocrine glands and cardiovascular system. The most common features include Café au lait spots, freckling, neurofibromas on peripheral nerves and Lisch nodules. Arterial involvement usually manifests as stenoses, occlusions, arteriovenous malformations, fistulas and aneurysms. Aneurysms are uncommon and may occur by fibrohyaline thickening of the intima with fragmentation of the muscularis and elastica [1].
In this patient, diagnosis was made with contrast enhanced computed tomography, which revealed arterial wall irregularities, contrast extravasation and the location of the affected vessel. Angiography may also be useful demonstrating contrast extravasation in a ruptured aneurysm.
In patients with neurofibromatosis, arterial fragility limits vessel reconstruction. Treatment of choice is surgical or endovascular occlusion of the affected vessels. Therefore, endovascular stenting might be considered in some cases.

Differential Diagnosis List

Final Diagnosis

Right thyrocervical trunk spontaneous rupture secondary to neurofibromatosis type I.

URL:	https://www.eurorad.org/case/9352
DOI:	10.1594/EURORAD/CASE.9352
ISSN:	1563-4086