Fatal Retroperitoneal Bleeding in Neurofibromatosis Type 1: A Clinically Occult Complication. (18th March 2023)

• Record Type: Journal Article
• Authors: Voudouri, Mariana; Chambers, Meagan; Baker, Michael L.; Kerr, Darcy A.
• Is Part Of: American journal of forensic medicine & pathology. Volume 44:Number 1(2023)
• Page Start: 63
• Page End: 67
• Publication Date: 2023-03-18
• Subjects: diffuse neurofibroma -- forensic pathology -- massive hemorrhage -- neurofibroma -- neurofibromatosis -- NF1 -- retroperitoneum; Medical jurisprudence -- Periodicals; Forensic pathology -- Periodicals; 614.105
• DOI: 10.1097/PAF.0000000000000806
• Languages: English
• ISSNs: 0195-7910

Abstract

Abstract: Neurofibromatosis type 1 (NF1) is a common, autosomal dominant neurocutaneous syndrome. The most frequent clinical manifestations include multiple neurofibromas, café-au-lait spots, dystrophic scoliosis, benign and malignant peripheral nerve sheath tumors, and paragangliomas. Neurofibromatosis type 1 vasculopathy is a less well-recognized constellation of vascular pathologies that can cause significant medical complications in patients with NF1. A rare manifestation of this process is neurofibroma infiltration of vasculature with resultant bleeding. The case presented herein illustrates a rare example of a massive fatal hemorrhage due to disruption of a large paraspinal artery in the setting of a diffuse, infiltrative neurofibroma. This case highlights the potential of benign neurofibromas to infiltrate major blood vessels, leading to extensive bleeding and death.