Pseudoartrosis Congénita de Tibia en Neurofibromatosis Tipo 1: Reporte de Caso.

Abstract

Congenital Pseudoarthrosis of the Tibia is a rare pathology, which is part of approximately 50% of patients with Neurofibromatosis type 1, autosomal dominant genetic pathology that may have genetic variants with multiple clinical features including bone dysplasia. Congenital Pseudoarthrosis of the Tibia clinically presents from a mild angular deformity of the tibia to non-union bone, which can be accompanied by an alteration in the fibula of similar characteristics. The diagnosis can be performed in prenatal age or in the first weeks of life. Histologically it is constituted by a tissue with proliferation of mature differentiated cells that are arranged and grow in a disorganized manner called Hamartoma. There are several treatments for this pathology within which the surgical with intramedullary nailing with bone graft presents good postoperative results, however there may always be the possibility of complications of this pathology that can lead to the amputation of part of the affected limb.

The aim of this report is to present a clinical case of congenital Tibia Pseudoarthrosis with previous diagnosis of Neurofibromatosis Type 1, surgical management with intramedullary nailing and its postoperative results, as well as a bibliography review of this uncommon pathology.