RESUMO
Neurofibromatosis type 1 is a polysystemic disease presenting with a multifaceted clinical picture. Clinical manifestations may present in the skin, as well as in the skeletal and cardiovascular system. The present study aims to describe and examine the case of a 46-year-old woman, who suffered from neurofibromatosis type 1 and died abruptly in the emergency room. The forensic examination attributed her death to traumatic rupture of the thoracic aorta resulting from an acute angulation that her vertebral column formed in the thoracic region (severe kyphosis). Outspread cutaneous neurofibromas, severe scoliosis, and osteoporosis (brittle bones) were observed during the autopsy. No atherosclerotic lesions were detected in the aortic lumen. To the authors' knowledge, no similar case has been reported throughout relevant literature.