Bone Abstracts

Background: Gorham Stout syndrome, also called disseminated lymphangiomatosis, is a rare disease of unknown etiology and pathogenesis. This syndrome is characterized by an abnormal proliferation of thin walled capillaries and small lymphatic vessels that results in the massive osteolysis of adjacent bone. Surrounding soft tissues such as muscle, connective tissue, and viscera may also be affected. Chylothorax occurs secondary to direct involvement of the pleural cavity or the thoracic duct and this complication is almost always fatal.

Until now only about 35 cases of Gorham’s syndrome complicated by chylothorax have been reported in the literature.

Case report: A 11-month-old boy presented to our hospital with respiratory distress and tachypnea. His medical history was significant for a mild growth retard and feeding difficulties with recurrent vomiting since the 6th month.

A chest radiograph showed left pleural effusion. MRI of thorax and abdomen demonstrated multiple cystic lesions containing multiple septa; the major was in the mediastinum and extended from the neck base to diaphgram involving the aorta. Other cystic lesions were described in the spleen, ribs, omerus and dorsal and lumbar vertebrae. Thoracentesis revealed chylothorax and chest tubes were placed bilaterally with continuous and large volume of chylous drainage.

Infection, malignancy and immunodeficiency were ruled out. Several surgical interventions were performed during the following months: excision of the bigger lymphatic mass, ligation of multiple oozing sites, pleurodesis and finally thoracic duct ligation. At 17 months the patient started therapy with α-2b interferon. 10 months later MRI showed no recurrence of pleural effusions, but a progressive enlargement of skeletal lesions was described. Thus, after an informed consent, we decided to start therapy with bisphosphonates.

Discussion: we described a case of Gorham syndrome, complicated by chylotohrax, that presented a good response to aggressive surgical management. Due to the rarity and varied presentations of Gorham’s disease, there is no standard treatment for this disorder but new and focused therapeutic interventions are needed. Only a regular follow up could help us to known if bisphosphonates are helpful in this disorder.