Gorham-Stout syndrome presenting in a 5-year-old girl with a successful bisphosphonate therapeutic effect

Abstract

Gorham-Stout syndrome (GSS), also known as Gorham-Stout disease, massive osteolysis, disappearing bone disease or phantom bone, is a rare disorder of the musculo-skeletal system. It most commonly involves the skull, shoulder and pelvic girdle. Histological examination reveals a progressive osteolysis always associated with an angiomatosis of blood vessels and sometimes of lymphatics, which seemingly is responsible for the destruction of the bone. It is extremely rare that Gorham-Stout syndrome involves the bones of the entire body. A 5-year-old girl complaining of intermittent and dull back pain for 3 months was admitted to a local hospital. X-ray revealed left pleural effusion, and the patient was diagnosed with tuberculous pleurisy. Thus, anti-tuberculosis therapy was performed. However, it was not effective. A soft mass with significant tenderness was found in the upper segment of the right leg 50 days afterwards. X-ray revealed multiple osteolysis of the bilateral clavicle, scapula, rib, vertebral body, ilium, sacrum, femur and tibia. The biopsy from the right tibia disclosed that the lesion was composed of hyperplastic blood vessels and fibrous tissues similar to hemangioma. Based on the above clinical, radiological and histopathological findings, the clinical physician confirmed a diagnosis of Gorham-Stout disease, and prescribed oral anti-osteoclastic medications consisting of bisphosphonates. At present, the girl is alive and healthy, and new lesions have not been noted.