An interesting case of vanishing shoulder: BMJ case report
A 37-year-old woman with progressive difficulty in using her left arm and with discomfort in the left shoulder was evaluated. Her complaints were of insidious onset and progressed over a period of 3 months. She had a soft shoulder and passive movements in the left shoulder were increased in all ranges, with internal and external rotation of 180° each. Active abduction was up to 90°.

Radiographs of the shoulder demonstrated the absence of humeral head and a small sliver of bone, reminiscent of the greater tubercle. She was evaluated for neuropathic arthropathy, infection, neoplastic, metabolic and endocrine causes of osteolysis using appropriate blood tests and imaging techniques. Her blood parameters were normal. MRI confirmed absence of the proximal humerus and resorption and expansion of the glenoid cavity.

A syrinx extending from the C2–D9 spinal region was incidentally found corroborating with the suspicion of neuropathy, but the patient had no neurological manifestations and the nerve conduction tests were normal.
Presence of pain, extensive osteolysis and absence of neuropathy led to the suspicion of Gorham-Stout syndrome (GSS).

Since the patient had minimal disability, she was not willing for a biopsy or any form of surgical intervention. Due to lack of convincing evidence in the literature, pharmacotherapy was not tried and the patient was put on a regimen of shoulder strengthening and range of motion exercises.

Learning points
• Although a rare entity, Gorham-Stout syndrome should be considered in the differential diagnosis in cases of unprovoked osteolysis and pain even in the presence of a syrinx, and has to be differentiated from neuropathic arthropathy, where surgical outcomes are poor.

• The treatment options are varied and should be tailored as per the needs of the patient and the site and severity of the disease.

• Vitamin D, bisphosphonates, calcitonin and radiation, which have been shown to arrest disease progression, may be of use in the early stages.

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