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CASE REPORTS
JOURNAL ARTICLE
Fatal acute retropharyngeal hemorrhage in neurofibromatosis type 1.
Forensic Science, Medicine, and Pathology 2017 December
We report the sudden death of a woman with neurofibromatosis type 1 (NF1). The decedent developed acute respiratory distress and died rapidly despite an emergent cricothyroidotomy. An autopsy with postmortem CT scan was performed to determine the cause of the fatal respiratory collapse and to determine if death was related to neurofibromatosis. Postmortem examination revealed the classical external hallmarks of neurofibromatosis, including innumerable cutaneous neurofibromas. In addition, there was a massive retropharyngeal hematoma with fatal extrinsic compression of the airway. On macroscopic examination A localized 3 cm diameter tumor nodule was found in the soft tissues of the neck. Histologic examination of the nodule revealed a neurofibroma. In addition, histologic sections of the hematoma and surrounding soft tissues revealed plexiform neurofibroma with infiltration of the walls of small blood vessels and of the right vertebral artery. The fatal retropharyngeal hemorrhage was caused by diffuse infiltration of the blood vessels of the neck by plexiform neurofibroma. We concluded that the underlying cause of death was NF1. This case underscores the protean nature of neurofibroma, particularly when diffuse interstitial hemorrhage is present. Infiltration of soft tissues by neurofibroma may only be detectable on histologic examination.
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