Bone Abstracts

Introduction: Gorham disease (GD), also known as Gorham–Stout syndrome, massive osteolysis or disappearing bone disease, is a very rare disease characterized by spontaneous and progressive osteolysis of one or more bones. Its prognosis is highly variable and unpredictable, ranging from minimal disability to death, due to involvement of vital structures, such as the vertebral column and rib cage. Osteoclasts hyperactivity has been suggested as potential pathogenetic abnormality for GD but lymphangiomatous vessel proliferation may be the responsible for bone osteolysis as well as soft tissue involvement.

Description of methods: A 26-year-old man was observed for cervical pain. Loss of lordosis and limited range of movement were noted at the cervical spine.

Results: Cervical X-rays showed vertebral lysis and instability. Laboratory blood exams didn’t show any abnormalities. Discectomy and anterior arthrodesis were performed, complicated by easy bleeding and neurological symptoms (left C6 radiculopathy) immediately afterwards. Re-intervention was required.

Histhological examination revealed a hemangiomatous lesion.

Three months later, X-rays showed C3–C4 subluxation which required surgical correction.

Imaging (X-ray and IRM) evolution since the symptoms started revealed progressive osteolysis with disappearance of posterior vertebral structures.

Conclusion: Cervical GD diagnosis was made based on clinical, imaging and histopatological abnormalities. There is no recognized effective treatment for this disorder. Surgery, radiotherapy, therapy with biphosphonates or interferon-α2b have been tried. In this case, the patient remained in stable remission after surgical management. The report of such a rare disease and in an uncommon site should be kept in mind in the differential diagnosis of osteolysis of unknown cause.