A case of spontaneous haematoma from vertebral artery arterio-venous fistula in a patient with neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by a mutation on chromosome 17. Vascular abnormalities are recognised complications of NF1. These include aneurysms, stenoses, arteriovenous malformations, fistulae, etc. We report the case of a young gentleman with NF1 with a spontaneous cervical bleed from an arteriovenous fistula arising from the left vertebral artery, and illustrate the various management options and difficulties arising from rapid fistula formation.

Endovascular embolization and needle aspiration of a life-threatening cervical hematoma due to a neurofibromatosis type 1–associated arteriovenous fistula: illustrative case

“…There have been 4 cases of cervical subcutaneous hemorrhage due to an NF1-associated vertebral AVF, including the present case 2 , 7 , 11 ( Table 1 ). Of them, Narayanamurthy et al 7 reported a fatal case of cervical spontaneous hemorrhage that underwent endovascular obliteration followed by surgical hematoma removal to prevent airway obstruction.…”

“…There have been 4 cases of cervical subcutaneous hemorrhage due to an NF1-associated vertebral AVF, including the present case 2 , 7 , 11 ( Table 1 ). Of them, Narayanamurthy et al 7 reported a fatal case of cervical spontaneous hemorrhage that underwent endovascular obliteration followed by surgical hematoma removal to prevent airway obstruction. However, uncontrollable bleeding from the vasculature and damaged tissue required wound packing and transfusion of red blood cells, fresh frozen plasma, and platelets, resulting in a fatal outcome.…”

“… 1–7 As previously reported, an open surgical approach could risk uncontrollable bleeding from the vascular wall infiltration by a neurofibroma. 3 , 4 , 6 , 7 Therefore, in cases in which the bleeding source is considered strongly related to a neurofibroma, treatment strategies avoiding unnecessary damage of vascular structures should be considered.…”

Galenic dural arteriovenous fistula in neurofibromatosis type 1 treated with Onyx

“…Endovascular approaches are generally recommended as the initial treatment in most DAVFs, and open surgical techniques have high risk of bleeding due to the vascular fragility common in NF1. 7,8 Depending on the anatomy, a trans-arterial, transvenous, combined transarterial/transvenous approach can be used to cure a DAVF. 9 Multiple embolisation agents can be used.…”