Gorham-Stout disease of the spine presenting with intracranial hypotension and cerebrospinal fluid leak: A case report and review of the literature
- Department of Neurosurgery, Robert J. Tomsich Pathology and Laboratory Institute, Cleveland, United States.
- Department of Orthopedic Pathology, Robert J. Tomsich Pathology and Laboratory Institute, Cleveland, United States.
- Department of Pediatric Neurosurgery, Akron Children’s Hospital, Akron, Ohio, United States.
Department of Neurosurgery, Robert J. Tomsich Pathology and Laboratory Institute, Cleveland, United States.
DOI:10.25259/SNI_618_2020Copyright: © 2020 Surgical Neurology International This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
How to cite this article: Hana Yokoi1, Vikram Chakravarthy1, Benjamin Whiting1, Scott E. Kilpatrick2, Tsulee Chen3, Ajit Krishnaney1. Gorham-Stout disease of the spine presenting with intracranial hypotension and cerebrospinal fluid leak: A case report and review of the literature. 29-Dec-2020;11:466
How to cite this URL: Hana Yokoi1, Vikram Chakravarthy1, Benjamin Whiting1, Scott E. Kilpatrick2, Tsulee Chen3, Ajit Krishnaney1. Gorham-Stout disease of the spine presenting with intracranial hypotension and cerebrospinal fluid leak: A case report and review of the literature. 29-Dec-2020;11:466. Available from: https://surgicalneurologyint.com/surgicalint-articles/10502/
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.
Keywords: Cerebrospinal fluid leak, Gorham-Stout disease, Osteolysis, Pediatric neurosurgery, Thoracic fusion, Vanishing bone disease
Gorham-Stout (GS) disease or “vanishing bone disease” is rare and characterized by progressive, spontaneous osteolysis involving multiple segments. The reduction in pH and oxygen tension results in the release of hydrolytic enzymes and phosphatases from osteoblasts which stimulate bone resorption.[
Both spontaneous and posttraumatic angiomatosis result in regional osteolysis and the formation of a lymphovascular network. Periosteum, bone, and bone marrow are replaced by fibrous tissue, with subsequent direct extension of increased vascularity and lymphocytic infiltration (e.g., attributed to an abnormality of the lymphatic system).[
GS disease, a diagnosis of exclusion, is based on clinical, radiographic, and histological findings. Of the 200 reported cases in the literature, 59 involve the spine; only seven presented with a cerebrospinal fluid leak (CSF) leak.[
A 14-year-old female with a 1-year history of spontaneous mechanical thoracic back pain and atypical headaches (e.g., positional headaches for 2–3 months associated with Valsalva maneuvers). A CT brain demonstrated 1.5 cm cerebellar tonsillar ectopia, while the MR showed intracranial hypotension [
Preoperative imaging studies. (a) Magnetic resonance imaging neural axis demonstrating intracranial hypotension with no evidence of caudal tethered cord and contrast enhancement of T8 and T9 vertebral bodies. (b) Computed tomography thoracic spine demonstrating osseous lytic changes from T7 to T10 involving L T7-8 and T8-9 facet.
Computed tomography (CT)-guided biopsy, CSF leak repair, and instrumented fusion
Initially, she underwent a nondiagnostic T9 CT-guided biopsy. After discussion at tumor board, she was then managed with an open excision biopsy, repair of the CSF leak, and instrumented T6-T11 fusion to address the instability that resulted from osteolysis of the T9/T0 posterior elements.
Intraoperatively, the posterior elements of the vertebral column were absent at the T9-10 levels; rib head, lamina, and transverse processes were eroded and replaced with a thin membrane of fibrous tissue. Additional gelatinous material with a lattice pattern was noted within the epidural space, and the CSF fistula at T9-10 was repaired with Duragen and Tisseel. A microscope was utilized to inspect the dural defect. The dura was very friable, so primary closure was not successful. Next, pedicle screws were placed from T6 to T11, but only unilaterally at T8-9 given the lack of bony fixation points [
The operative specimen showed large vascular channels/lakes and reactive changes without mitotic figures, pleomorphism, or cellular atypia consistent with GS, as reported in the literature [
(a) Variably sized cystic hemorrhagic spaces have entirely replaced the intertrabecular marrow and connective tissue elements (H and E, low power). (b) The hemorrhagic cystic spaces are lined by flattened unremarkable endothelium (H and E, intermediate power). (c) Areas of fibrosis and reactive bone, with osteoblastic rimming, accompany the hemorrhagic cystic spaces, lined by flattened unremarkable endothelium (H and E, intermediate power).
She was treated with sirolimus, an immunosuppressant, and zolendronic acid, a bisphosphonate. Her positional headaches persisted, and imaging demonstrated a subtle persistent CSF leak which was treated with a blood patch [
With GS disease, surgical intervention is generally reserved for patients with neurological impairment, significant deformity, or failure to respond to conservative treatment.[
In a series of Tateda et al., 59 cases of spinal GS, 49% occurring in the cervical spine, and 46% in the thoracic spine, the majority of cases involved multiple vertebral levels.[
Tateda et al. found the primary involvement of the spine in 59 cases.[
Medical management targets active bone resorption with bisphosphonates (ex., Zoledronic Acid) as the mainstay of therapy. They inhibit osteoclast activity, preventing further bony lysis; furthermore, bisphosphonates reduce Interleukin-6 activity, decreasing the proliferation of GS vessels.[
Other treatment modalities utilized, which included subcutaneous interferon (IFN)-alpha-2B injections, bisphosphonates, sirolimus for chylothorax development, oral Vitamin D, epidural blood patch, and/or open surgical repair with assistance of dural sealant/glue/gelatin sponge.[
Heyd et al. found radiotherapy to be effective in preventing disease progression in 77–80% cases.[
Surgical intervention, reserved for patients with significant deformity, multi-level spinal involvement, or neurologic deficit, includes rigid fixation with instrumentation, decompression, or spondylectomy.[
GS disease is rare disease that remains difficult to identify and treat. Further, prospective studies and identification of molecular and biochemical pathways will help elucidate optimal management and outcomes.
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