Gorham-Stout disease of the spine presenting with intracranial hypotension and cerebrospinal fluid leak: A case report and review of the literature

Abstract

Background: Gorham-Stout (GS) disease or “vanishing bone disease” is rare and characterized by progressive, spontaneous osteolysis resulting in loss of bone on imaging studies. Treatment modalities include combinations of medical and/or surgical treatment and radiation therapy.Case Description: A 14-year-old female with GS disease presented with a 1-year history of thoracic back pain and atypical headaches consistent with intracranial hypotension. Magnetic resonance imaging and operative findings demonstrated a spontaneous thoracic cerebrospinal fluid leak (CSF) (e.g., that extended into the pleural cavity) and complete osteolysis of the T9-10 posterior bony elements (e.g., including the rib head, lamina, and transverse processes). The patient underwent repair of CSF fistula followed by a T6-11 instrumented fusion.Conclusion: This case of GS disease, involving a thoracic CSF fistula and absence/osteolysis of the T9-T10 bony elements, could be successfully managed with direct dural repair and an instrumented T6-T11 fusion.