Abstract
A 33-year-old woman was admitted to hospital with an injured right knee. She had a history of fractures and been previously diagnosed with osteopetrosis. She was 136 cm tall with short digits, fl at and grooved nails, and all the facial characteristics of pycnodysostosis. Results of laboratory tests showed no evidence of anaemia. Radiography revealed a patella fracture with increased bone density and acro-osteolysis of the distal phalanges (fi gure A, B). She was diagnosed with pycnodysostosis on the basis of clinical and radiological fi ndings. Surgical repair was undertaken, and low-intensity pulsed ultrasound treatment was initiated postoperatively. Bony union was confi rmed with full range of active knee motion 15 months after surgery. Pycnodysostosis is an autosomal recessive lysosomal storage disorder caused by a mutation in the gene encoding the enzyme cathepsin K. Features of pycnodysostosis include short stature and acroosteolysis. Laboratory results showing no evidence of anaemia can help to diff erentiate pycnodysostosis from osteopetrosis. Pathological fractures of long bones are characteristic of pycno dysostosis, whereas patella fractures are extremely rare.
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