Fatal spontaneous haemorrhage in Von Recklinghausen's disease

Abstract

Spontaneous bleeding of neurofibroma is a rare complication in Von Recklinghausen's disease. We report a case of sudden death of a patient who had undergone laminectomy for excision of cervical neurofibroma.

Fatal Retroperitoneal Bleeding in Neurofibromatosis Type 1

“…A literature review revealed 3 well-documented prior cases of retroperitoneal hemorrhage in the setting of NF1. [23][24][25] The first, described by Wan in 1988, 23 similarly involved a patient with NF1 and prior spinal surgical intervention in childhood. The patient presented with sudden severe right hip pain, and surgical exploration revealed a large right retroperitoneal hematoma involving the psoas muscle.…”

“…Detailed postmortem macroscopic and microscopic examination of the tissues involving the hemorrhagic site was required to reveal the source of bleeding. A literature review revealed 3 well-documented prior cases of retroperitoneal hemorrhage in the setting of NF1 23–25 . The first, described by Wan in 1988, 23 similarly involved a patient with NF1 and prior spinal surgical intervention in childhood.…”

“…17 A wide variety of cases with intrathoracic, cerebral, subcutaneous, or retroperitoneal involvement have been described in the literature, with a mean patient age of 38 years (range, 22-54 years). [17][18][19][20][21][22][23][24][25] These cases range from a deadly retropharyngeal hematoma due to a plexiform neurofibroma at the site of prior surgical intervention 18 to successful preoperative embolization and subsequent surgical intervention in a plexiform neurofibroma of the left posterior neck with spontaneous expanding hemorrhage. 17 Between these extremes, Tomei et al 19 reported a nearly fatal, acutely expanding, hemorrhagic facial plexiform neurofibroma, in which bleeding was controlled surgically after extensive preoperative embolization.…”

“…Hemorrhage can be spontaneous, traumatic, or iatrogenic 17 . A wide variety of cases with intrathoracic, cerebral, subcutaneous, or retroperitoneal involvement have been described in the literature, with a mean patient age of 38 years (range, 22–54 years) 17–25 . These cases range from a deadly retropharyngeal hematoma due to a plexiform neurofibroma at the site of prior surgical intervention 18 to successful preoperative embolization and subsequent surgical intervention in a plexiform neurofibroma of the left posterior neck with spontaneous expanding hemorrhage 17 .…”

“…At autopsy, microscopic examination of the right psoas muscle revealed infiltrating neurofibromas with blood vessel erosion. Tsang et al 24 report a nearly identical example of a young woman with NF1 who developed a large fatal retroperitoneal hemorrhage of unknown antemortem origin. Postmortem examination confirmed the presence of multiple retroperitoneal neurofibromas and microscopic infiltration of the iliac vessels by tumor cells as the source of bleeding.…”