Disclosures: Alan Stupnitsky, MD: No financial relationships or conflicts of interest

Case Diagnosis: A 53-year-old female with Stickler syndrome and sacrococcygeal chordoma presented with left hip pain.

Case Description: We present the case of a 53-year-old female with Stickler syndrome with Pierre Robin features who presented to physiatry clinic with left hip pain limiting ambulation. On exam, she had a severe stiffness of the hip joint and scoliosis. She was referred for imaging which revealed severe left hip osteoarthritis and a mass from S2 level to the coccyx. Biopsy revealed pathology consistent with chordoma. She underwent wide resection with removal of half of S3, and S4 and S5 spinal nerves. Her course was complicated by urinary retention, neuropathic and incisional pain with associated pelvic floor dysfunction. Post-operatively, her pelvic pain improved, but hip pain persisted. She was eventually referred for total hip arthroplasty.

Setting: Physiatry ClinicAssessment/

Results: Although the patient’s chordoma was likely unrelated to her presentation for hip pain, physiatrists should be aware of this potential association since Stickler syndrome can predispose patients to musculoskeletal conditions that are often managed by physiatrists.

Discussion: To our knowledge, this is the first reported case of chordoma in a patient with Stickler syndrome. However, both the notochord and cartilage tissues express similar genes which implies the possibility of overlapping pathophysiology. In embryologic development, the notochord expresses collagen genes to form a precursor matrix for the elements of the spinal cord. Notably, type X collagen will be replaced by bone during ossification. Aberrant gene expression in the notochord due to collagen gene mutations may lead to inappropriate notochord development and predispose patients to chordoma development.

Conclusion: Stickler syndrome patients presenting with musculoskeletal complaints should be thoroughly evaluated for dysfunction related to abnormal collagen deposition. Large epidemiologic studies are needed to better characterize the features of this disease.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/a-53-year-old-female-with-stickler-syndrome-and-sacrococcygeal-chordoma-a-related-clinical-entity-a-case-report/