Gorham-Stout disease (GSD) is thought to be due to uncontrolled proliferation of vascular and lymphatic structures within bone tissue causing destruction and osteolysis of bone. We present a patient in her mid-40s who reported chronic shoulder pain, a pleural effusion and irregular periods. Investigations showed osteolysis of her ribs, pleural effusions, an ovarian mass and a raised carbohydrate antigen 125 (Ca-125). She was subsequently diagnosed with GSD, and referred to gynaecology-oncology in consideration of potential ovarian malignancy. GSD is a diagnosis of exclusion that requires a high degree of clinical suspicion, as well as multiple investigations to achieve diagnosis. Clinicians rely on a small number of case reports to provide guidance for this. Therefore, this report provides an overview of a rare pathology, considers the differentials of a raised Ca-125 and describes how a pleural effusion, which links them both, alarmed us regarding an incidental finding of an ovarian cyst.
BMJ case reports
Department of Gynaecology Oncology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Ribs, Humans, Ovarian Neoplasms, Osteolysis, Essential, Osteolysis, Pleural Effusion, Diagnosis, Differential, Female