Management of Genu Varum/Valgum in Shwachman-Diamond Syndrome: A Report of Two Cases

Abstract

Shwachman’s syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. The skeletal defects in the knees are related to the asymmetrical development of the growth plates that can result in varum/valgum deformities. We describe two cases of knee deformity in SDS patients surgically treated. In case n.1, because of a severe deformity, an osteotomy of the distal femur was performed by removing a lateral wedge and stabilizing with a staple, plus lateral tibial hemiepiphysiodesis. In case n. 2 first a medial hemiepiphysiodesis of the proximal tibia with Blount staples was performed. After 18 months the staples were removed from the tibia and a medial femoral hemiepiphysiodesis was performed. In both patients satisfactory angular alignment of the knees was obtained. In patients with genu varu/valgum in SDS the general condition of the patient (values of neutropenia and thrombocytopenia) determines the timing of surgical treatment because the risk of infection is always lurking. Traditional methods, such as osteotomy or hemiepiphysiodesis, have proved to be effective in the treatment of these deformities, but must be finely adjusted, by repeating or combining these procedures to adapt to the conditions of the pathologic physes.