The importance of computed tomography (CT) scans in the early diagnosis of Gorham-Stout Disease – A case report

Gorham Stout disease (GSD) or vanishing bone disease is an infrequent entity in clinical practice characterized by gross and progressive bone loss along with excessive growth of vascular and lymphatic tissue. Very little is known about the pathogenesis of GSD, which makes the diagnosis challenging. Due to the rarity of the disease, no treatment guidelines have been created yet. We report a case of GSD in a 53-year-old male patient. He presented with bone pain and initial imaging showed widespread osteolytic lesions in the cervical and mid thoracic spine, ribs, sternum, clavicles, scapula and humerus. Two percutaneous bone biopsies were performed, followed by an open spine biopsy of the L2 spinous processes for histological examination. Unfortunately, no diagnosis was established. Although, he was treated symptomatically, he kept enduring pain and presented again after seven months. His laboratory values were out of the normal range which prompted thorough investigations. New imaging and bone biopsy revealed multiple osteolytic lesions and vascular lesions with cavernous morphology. GSD was diagnosed after ruling out a neoplastic process and confirming the cavernous morphology with immunohistochemical stain. He was treated symptomatically with immunomodulators, bisphosphonates and supplements. Regular follow-up with a specialist was recommended. We hope this case will raise awareness of GSD in common clinical practice and shed some insight on its clinical presentation and the role CT and other imaging modalities play in the diagnosis of GSD.