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.

Epidural Hematoma related to lower limb pain and massive liver bleeding in Gorham-Stout disease: A case report

“…Consequently, CSF leakage is caused by fistulae formation in the dura mater. [17] CSF leakage can induce intracranial hypotension and lead to chronic subdural hematomas, [18] as observed in this report. Furthermore, bleeding and hematoma have been reported in the affected regions following the injury of fragile proliferated lymphangiomatous tissues.…”

Cerebrospinal fluid–lymphatic fistula in a child with generalized lymphatic anomaly treated with targeted blood patch — a rare case report and review of the literature

“…Suero-Molina et al [ 3 ] presented a case of a 30-year-old male with GDS, where the CSF leak at the level of Th11 was first attempted to be treated by an epidural blood patch, followed by surgical ligation and sealing of the root. Recently, Yokoi et al [ 6 ] reported a case of a child with GDS and CSF leak into osteolytic posterior bony elements Th9-10, treated with direct surgical repair and vertebral fixation. Soderlund et al [ 4 ] presented a case of a child with KLA who developed postural headaches due to a CSF-lymphatic fistula related to a lymphatic malformation associated with the right Th10 root nerve.…”

“…The most common cause is a cerebrospinal fluid (CSF) leak through the defect in the spinal dural sac, either due to a dural tear, ruptured meningeal diverticula or CSF-venous fistulas [ 1 ]. However, there have exceptionally been reported [ 2 – 6 ] also spinal CSF fistulas into paravertebral lymphatic masses in patients harboring lymphatic anomalies like Gorham-Stout disease (GSD), generalized lymphatic anomaly (GLA) or kaposiform lymphangiomatosis (KLA) (Table 1 ). In these few cases, the patients were treated with epidural and/or transforaminal blood patch, surgical obliteration or liquid embolization, respectively.…”

Vanishing Bone Disease of the Thoracic Cage: Challenges in the Management of a Rare Entity

“…Vanishing bone disease, eponymously known as Gorham-Stout syndrome, is a rare disease of the bone which is characterized by massive osteolysis of the osseous matrix and lymphovascular proliferation eventually resulting in destruction and absorption of the bone. Typically, it involves the bones of the maxillo-facial region, extremities, ribs and the pelvic girdle 1 .…”

“…Typically, it involves the bones of the maxillofacial region, extremities, ribs, and pelvic girdle. 1 Rarely, it may present with life-threatening complications, such as pleural effusion, chylothorax, hemangiomatous lesions of the skin, pericardial effusion, osteomyelitis with septic shock, increased intracranial pressure, meningitis, cerebrospinal fluid leakage, spinal cord involvement, and paraplegia by vertebral involvement, depending on the site of involvement. Severe complications mandate that a multimodal approach to treatment is considered that includes medications, surgery, and radiation therapy.…”