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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.

Original publication

DOI

10.1136/bcr-2022-250477

Type

Journal article

Journal

BMJ case reports

Publication Date

11/2022

Volume

15

Addresses

Department of Gynaecology Oncology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Keywords

Ribs, Humans, Ovarian Neoplasms, Osteolysis, Essential, Osteolysis, Pleural Effusion, Diagnosis, Differential, Female