Hematoma cervical e hemotórax espontâneos no contexto de neurofibromatose tipo I

Abstract

Introduction

Neurofibromatosis type1 (NF1), also known as Von Recklinghausen disease, is caused by an autosomal dominant abnormality in chromosome 17, responsible for the impaired production of neurofibromin. The presence of cafe‐au‐lait spots, neurofibromas and iris hamartomas are cardinal signs of the disease. The occurrence of a fatal or near‐fatal haemorrhage is reported in pleural, peritoneal, retroperitoneum, soft tissues of the trunk and extremities. The massive hemorrhage is caused by rupture of friable blood vessels as a consequence of impaired expression of neurofibromin in the arteries and veins. One of the most serious clinical consequences described in NF1 is the occurrence of severe haemorrhage and difficulty achieving hemostatic control.

Objectives

We report a case of spontaneous massive cervical hematoma and hemothorax as a result of venous rupture of innominate, subclavian and subclavian‐jugular veins junction in a NF1 patient.

Case report

A 51 year‐old woman with past history of neurofibromatosis type I and hypertension was admitted to the emergency department with an haemorrhagic shock in the clinical set of a sudden right shoulder pain and a expansive right cervical swelling. The CT angiography showed a massive hematoma, involving the right cervical, retropharyngeal‐prevertebral, right supraclavicular and the mediastinum regions, associated with an important right haemothorax.

Through a supraclavicular approach, it was performed hematoma drainage and identification of bleeding sources including: brachycephalic venous trunk, the subclavian vein and subclavian‐jugular confluence. It was required clavicle section to achieve haemorragic control and suture the ruptured venous trunks. A VATS was performed for haemothorax drainage and confirmed the absence of active bleeding.

A postoperative CT angiography confirmed the resolution of the right cervical hematoma and absence of contrast extravasation. Additionally it was found a saccular aneurysm of the right vertebral artery corrected later by embolization with coils.

Conclusion

NF1 is a genetic disorder that rarely can be associated with life‐threatening haemorrhage. The vasculopathy is an underestimated complication with limited recognition in NF1. The excessive vascular friability with spontaneous bleeding in NF1 is rare and can be fatal, requiring a timely diagnosis and prompt treatment.