Gorham’s disease: an unusual case of chylothorax with unilateral limb swelling

Abstract

Gorham's disease is an uncommon pathology with unknown etiology, characterized by atypical growth of vascular or lymphatic structures within the bone, resulting in bone loss or disappearance. The resorption of the bone is spontaneous, associated with damage to the osseous matrix and proliferation of lymphatics which results in regional osteolysis. It may involve one bone or sometimes multiple bones. Histological, radiological, and clinical features together help make a diagnosis. The cause, prognosis, and treatment of Gorham’s disease are currently unknown. Chylothorax is a complication of Gorham’s disease with an extremely poor prognosis.

We report a case of an 11-year-old boy with severely deformed left lower limb bones complicated by bilateral chylothorax. After excluding neoplastic, traumatic, and infective etiology we made the diagnosis of Gorham’s disease. This report sheds some light on this rare disease and highlights the importance of a quick diagnosis and for definitive treatment to be introduced.