(Kiosk 2) Mazabraud Syndrome and the Role of Physiatry: Case Report

Case Diagnosis: 57-year-old female diagnosed with Mazabraud syndrome.

Case Description or Program Description: The patient presented with worsening right knee pain for more than 1 year, described as sharp and intermittent. Aggravating factors included prolonged standing, kneeling, or sitting. Alleviating factors included rest, pain medications, and muscle relaxers. MR of the knee demonstrated a well circumscribed intramedullary lesion of the distal femur. However, the upper border was not visible. Physical exam revealed a large, palpable mass of the proximal femur that was tender on palpation. Additional images (MR and x-rays) were warranted due to this new finding.

Setting: Outpatient Physiatry clinic

Assessment/Results: An x-ray of the right femur demonstrated osteolytic foci of the femoral neck with medullary endosteal scalloping of the femoral shaft. MR of the thigh/femur with contrast demonstrated 3 large heterogeneously enhancing T2 hyperintense mass lesions with multiple nodular lesions within the vastus intermedius, vastus medialis, and iliopsoas musculature. She was referred to an orthopedic oncologist and diagnosed with Mazabraud Syndrome.

Discussion (relevance): Mazabraud syndrome is defined by the association of bone fibrous dysplasia and intramuscular myxoma. The prevalence is approximately 1/1,000,000 people, but most common in females and located in the femur. Presentation can vary from asymptomatic to painful forms including deformities or pathologic fractures. Treatment also varies from surgery to medication or close clinical and imaging follow up. In this case, she was enrolled in a physical therapy program focused on strengthening, gait stabilization, and a home exercise program with good improvement of her symptoms.

Conclusions: Mazabraud syndrome is a rare disease that should be considered when patients have musculoskeletal pain with imaging demonstrating possible fibrous changes or questionable lytic lesions particularly in the femur or pelvis. Physiatry is a uniquely qualified field to assist these patients with diagnosis and direction of care, including medications, therapy, and referrals for orthopedic surgery if needed.