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Slipped Capital Femoral Epiphysis in a Child with Pycnodysostosis: A Case Report.

Pycnodysostosis is an autosomal recessive osteochondrodysplasia characterized by short stature, dysmorphic facial features, osteosclerosis, and the propensity for frequent fractures1-6. Patients with pycnodysostosis have mutations of the gene that encodes the lysosomal protein cathepsin K. This genetic abnormality results in decreased osteoclastic activity and brittle bones, which are prone to fracture3. Characteristically, diaphyseal fractures of long bones occur2 but fractures of the femoral neck are infrequent1. To our knowledge, epiphyseal separation and slipped capital femoral epiphysis (SCFE) have not been previously reported in children with pycnodysostosis. We present a child with pycnodysostosis who sustained an SCFE. The patient and his parents were informed that clinical details and photographs concerning the case would be submitted for publication, and they provided consent.

A nine-year-old boy born to second-degree consanguineous parents had developed pain in the left hip and inability to bear weight on the left limb following a trivial fall. Radiographs had revealed a mildly displaced SCFE (Fig. 1-a). The epiphysis had been stabilized with two smooth pins (Fig. 1-b). When beginning weight-bearing after three months, the patient had experienced hip pain. The surgeon had assumed that the pins were the source of the pain and subsequently had removed them. The pain had increased even more over the next two days, and new radiographs had revealed severe displacement of the capital femoral epiphysis (Fig. 2). The slipped epiphysis had then been reduced and stabilized with …