A rare case of internal jugular vein aneurysm with massive hemorrhage in neurofibromatosis type 1

Abstract

Neurofibromatosis Type 1 (NF1) is a relatively common autosomal dominant disorder. Vascular involvement is a well-recognized manifestation of NF1, but venous aneurysm associated with NF1 is extremely rare. We present a case of an NF1 patient with a left internal jugular vein aneurysm with massive hemorrhage occurring during surgery. Due to the extreme fragility of both the aneurismal wall and the surrounding tissue, the patient developed severe intraoperative bleeding. Pathological examination confirmed aneurismal wall infiltration of the neurofibromatosis. Physicians should be aware that hemorrhagic complication in NF1 can occur and be fatal.

Surgical resection of rare internal jugular vein aneurysm in neurofibromatosis type 1

“…Limitations to our workup include not submitting the aneurysmal wall for pathological analysis as 3 of the 4 described aneurysms associated with NF1 in the literature describe histopathological invasion of NF1 into the wall[ 12 , 14 , 15 ]. While not necessary for the diagnosis, it could have helped substantiate a more definitive pathological explanation.…”

“…IJ aneurysms have rarely been reported on and only a handful have been described in association with NF1 (Table 1 )[ 12 - 15 ]. These lesions typically present much larger than other cases and ours, at 6.9 cm × 5.8 cm × 5.4 cm, is one of the largest described in the literature.…”

“…Additionally, pathological analyses of resected aneurysms have described congenital thinning of the elastic and muscular layers of the venous wall, and/or elastin dysplasia[ 10 , 11 ]. Not surprisingly, disorders of connective tissue, including Ehlers-Danlos and Neurofibromatosis type 1 (NF1), have been linked to these anomalies[ 4 , 12 - 14 ].…”

“…NF1 aka von Recklinghausen’s disease is an autosomal dominant mutation of chromosome 17 occurring in 1 in 3000 people that alters the neurofibromin protein, affecting the structural integrity of connective tissues and nerves[ 12 , 13 ]. Typical presentations include neurofibromas, café au lait macules, Lisch hamartomas, meningiomas, and gliomas[ 13 , 14 ].…”

“…Typical presentations include neurofibromas, café au lait macules, Lisch hamartomas, meningiomas, and gliomas[ 13 , 14 ]. Rarer manifestations involve the vasculature which can be present in up to 6.4% of patients, however it primarily involves the arterial system[ 12 , 15 ]. We present a case of the successful ligation and excision of one of the largest IJ vein aneurysms in the literature and one of only five associated with NF1.…”