Pycnodysostosis - Page #4
 

Working Diagnosis:
New Tibial Stress Fracture

Treatment:
The patient was advised not to run and progress weight-bearing activity as tolerated for a total of 6-10 weeks. Pneumatic leg brace or short leg boot was not used in treatment because of length of time at presentation and normal gait on exam.

Outcome:
The patient was not seen for follow up in clinic. However, he was seen in the community. He reported no pain and was continuing to run.

Author's Comments:
Pycnodysostosis is an autosomal recessive genetic deficiency in cathespin-K, which affects osteoclastic activity. The lack of osteoclasts leads to thick, brittle bones. Fractures require longer healing period and fracture lines may persist making new stress fractures difficult to diagnose. Fractures occur with minimal stress. They predominantly occur in the legs and feet.

Patients with this disease should not be allowed to play contact sports. They should be encouraged to participate in non-impact activities such as swimming or cycling.

Some patients with repetitive fractures may require surgical placement of a rod to help with healing. Our patient's bones are extremely brittle from Pycnodysostosis. Placement of any surgical hardware would be difficult and may produce more fractures.

In athletes without Pycnodysostosis, typical stress fracture healing is 4-6 weeks followed by gradual return to activity. If our patient presented earlier, he would have been followed radiographically and returned to weight-bearing activities after callous formation.

References:
Shiel W C. Pycnodysostosis. Medicinenet. 2009 July 9;1-6

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