Telescoping Nail Osteosynthesis in Management of Osteogenesis Imperfecta in Growing Child

Osteogenesis imperfecta (OI) is an autosomal dominant or recessive connective tissue disorder caused by the deficiency of Type I collagen production associated with the deficiency of collagen Type I alpha 1 chain and collagen Type I alpha 2 chain. This disease causes problems in all tissues that contain Type 1 collagen. In addition to many systemic problems such as blue sclera, otosclerosis, cardiac diseases, elasticity in the joint and thinning of the fascia, it also causes the loss of the normal ossification of the endochondral bone. This results in easily fragile bones. Although recurrent fractures show spontaneous healing traits, they lead to increased deformities developing with age . (24).

Osteogenesis Imperfecta (OI) is a hereditary condition affecting approximately 1 in 20,000 births with eleven recognized types of illness each one with its characteristics. Children with OI have low bone mass together with poor structural value, so, these two problems lead to recurrent fractures, varying degrees of short stature and progressive deformities of the limb and of the whole body in general. Severity ranges from those mildly affected individuals (Type 1) who have minimal bone deformity, near normal stature, blue sclerae and variable hearing loss, to those who are lethally affected with multiple fractures both in utero and in the first month of life that lead to respiratory failure and death . (25).

On top of all these problems, the most important and dramatic one regards the bone system, and, the way it manifests itself is by brittleness of the bones that leads to more and more fractures as the child grows, the peak being in the first years after the walking age, that is about one year and 2 months to 1 year and 6 months. In all the cases this is the point when something must be done immediately because the prognosis goes from worse to worse as time goes by when the child grows and begins to walk, thus limiting the childs capacity for a normal life. The main drawback of not doing something to stabilize the bones and reinforce them is the development of progressive deformities of the bone that add up more stress on the child, parents and eventually on the medical staff because surgery gets riskier and more complex . (35).

In OI cases, osteosynthesis performed with intramedullary nailing is the gold standard for surgical treatment to be administered following fracture and deformity. Intramedullary nailing, together with its corrective effect on deformity, is also effective in preventing recurrent fractures. Intramedullary nailing should be performed in a way that does not hinder the growth of children and should minimize the need for repetitive surgery as the child grows . (36).

There are a limited number of intramedullary nail types designed for this purpose and research is underway for the ideal nail. Today, telescopic nails with elastic or extendable features are frequently resorted. With elastic nails, there was a problem of migration (retraction) over time, while the problem encountered in telescopic nails was the need to open the joint (arthrotomy) during fixation to prevent migration, which posed another challenge . (85).