Assistant Professor Washington University School of Medicine ST LOUIS, Missouri, United States
Case Diagnosis: Chordoma in a patient with hip pain and Stickler syndrome
Case Description: A 53-year-old female with Stickler syndrome presented to an outpatient musculoskeletal physiatry clinic for six months of deep left groin, lateral hip, and posterior pelvic pain that interfered with ambulation. Her sister also has Stickler syndrome and was previously diagnosed with a chordoma. The patient’s physical exam was notable for thoracic scoliosis and severe left hip stiffness, with reproduction of pain during hip motion. Radiographs revealed mild hip osteoarthritis. A subsequent noncontrast left hip MRI revealed severe hip osteoarthritis and a sacrococcygeal mass. Mass biopsy demonstrated a chordoma. She underwent wide resection with removal S3-S5 spinal nerves. Her post-operative course required inpatient rehabilitation for sitting precautions, urinary retention, constipation, and neuropathic and incisional pain. Post-operatively, her hip pain persisted, and she proceeded with total hip arthroplasty.
Discussions: Stickler syndrome is a disorder attributed to pathogenic collagen genes. It can predispose to joint laxity, scoliosis, osteoporosis, and facial abnormalities. Chordomas are notochord remnant tumors in the spine. These two rare disorders are not known to be associated with one another. To our knowledge, these are the first two reported cases of chordoma in patients with Stickler syndrome. However, cartilage and the notochord express similar genes, so aberrant collagen gene expression in the notochord may lead to inappropriate notochord development and predispose patients to chordomas. 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.
Conclusions: Stickler syndrome can predispose to multiple complications that require physiatric care due to abnormal collagen deposition. Treating physiatrists should be aware of a possible association with chordomas and screen for myelopathy symptoms accordingly.