Ekman-Lobstein Syndrome: Clinical, Radiologic Features, and the Therapeutic Challenge

Background: There is no satisfactory or curative therapy for many of the disabling genetic disorders such as Ekman-Lobstein syndrome (osteogenesis imperfecta). However, it is hoped that advances arising from the accumulating research evidence can contribute to improving treatment of such conditions. Therefore, reviewing the literature for the recent research evidence is recommended to improve the therapeutic services for such disorders.

Materials and methods: A case of Ekman-Lobstein syndrome associated with significant disability because of the lack of effective treatment was studied. The medical literature was reviewed for the recent research evidence that may help in improving the therapeutic services for patients with Ekman-Lobstein syndrome.

Result: The occurrence of Ekman-Lobstein syndrome has been observed and reported in Iraq, but it has not been well documented. An Iraq boy aged three year with the main clinical manifestations of non-lethal form of this disorder is described. The boy had a significant disability because of the lack of satisfactory treatment. The boy had experienced multiple fractures since early infancy that made him crippled and unable to walk.

Conclusion: Literature review helped in recommending an evidence-based treatment which is intravenous bisphosphonates every few months, this treatment may contribute to some improvement of the management of Ekman-Lobstein syndrome.

Keywords: Ekman-Lobstein syndrome; Clinical and radiologic features; Therapeutic challenge