[Neurofibromatosis type 1 revealed by malignant peripheral nerve sheath tumor]

Neurofibromatosis type 1 or Von Recklinghausen's disease is an affection with variable clinical expression. Malignant transformation is rare and dangerous.The aim of this work is to study diagnostic criterias as well as treatment of this malignant transformation.Sixteen years old patient presented with gradually progressive basicervical mass without compression nor dysthyroidy signs. Physical examination revealed a painless, hard and well limited mass measuring 4 cm. It was located in front of sternal manuhrium and associated to multiples "café au lait" spots, iris Lisch nodules and generalized neurofibromas. This mass was excised by cervical surgery. The histological exam concluded to a low grade malignant peripheral nerve sheath tumour Unfortunately despite a larger reoperation including resection of the manubrium, the limit of this excision were not safe. Early recurrence was observed, although treated by surgery, chemotherapy and radiotherapy, the patient died by mediastinal invasion.