Neurofibromatosis (case reports)

Abstract

Introduction: Neurofibromatosis includes a group of genetic diseases that cause tumors affecting nerve tissue. They are primarily benign, but in certain cases (3–5%) may undergo malignant transformation. Both the central and peripheral nervous systems can be affected. This results in their extremely diverse clinical manifestation—from mild cases to dramatic conditions. Three types of the disease have been described—neurofibromatosis type 1 (NF1), type 2 (NF2), and type 3—schwannomatosis.

Aim: The aim of this article is to pay attention to a rare disease with a variety of symptoms and course, which due to its progressive course in some patients can lead to severe functional deficits and even amputation.

Materials and Methods: Two patients are presented: a 4-year-old girl with a newly discovered disease with spinal localization, as well as a 53-year-old woman who underwent repeated surgery for newly emerging tumor formations in the area of the right forearm and arm.

Results: Six years after the removal of the tumor from the spinal area, the child has no complaints, no evidence of local recurrence or involvement of other organs. Three years after the operation, the patient with localization of the tumor in the upper limb has significantly improved blood supply and functional condition of the arm.

Conclusion: Neurofibromatosis is a disease with a variety of clinical manifestations. Limb surgeries should be planned and performed with extreme care and individual approach due to the high risk of additional vascular damage as well as potential malignant transformation.