A Girl with Bone Sclerosis and Fracture.

A previously fit and well 5-year-old girl presented to the emergency department with right hip pain and limp following a minor fall from play equipment. X-ray imaging confirmed the presence of a femoral fracture as well as diffuse sclerosis in the sacrum, pelvis, and bilateral proximal femurs (Fig. 1). MRI scan revealed mild stenosis of auditory canals, optic canals, and foramen magnum with no neural compression. DEXA (dual energy X-ray absorptiometry) scan showed markedly increased bone density, with a total body age-matched z score of +14. Bone marrow aspirate was normal. The patient had no other significant medical history and she was not on any regular medications. There was no family history of note but her mother also has increased bone mineral density.