- Department of Spine Surgery, Stavya Spine Hospital and Research Institute, Ahmedabad, Gujarat, India.
Ajay Krishnan, Department of Spine Surgery, Stavya Spine Hospital and Research Institute, Ahmedabad, Gujarat, India.
DOI:10.25259/SNI_221_2022Copyright: © 2022 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, transform, 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: Ajay Krishnan, Aditya Raj, Devanand Degulmadi, Shivanand Mayi, Raviranjan Rai, Shiv Kumar Bali, Vatsal Parmar, Prarthan Chirag Amin, Preety Krishnan, Mirant Dave, Bharat Dave. Gorham-Stout disease: A multirod lumbar reconstruction with off-label suppression-remission therapy. 08-Apr-2022;13:136
How to cite this URL: Ajay Krishnan, Aditya Raj, Devanand Degulmadi, Shivanand Mayi, Raviranjan Rai, Shiv Kumar Bali, Vatsal Parmar, Prarthan Chirag Amin, Preety Krishnan, Mirant Dave, Bharat Dave. Gorham-Stout disease: A multirod lumbar reconstruction with off-label suppression-remission therapy. 08-Apr-2022;13:136. Available from: https://surgicalneurologyint.com/surgicalint-articles/11514/
Background: Gorham-Stout disease (GSD), a fibro-lymphovascular entity in which tissue replaces the bone leading to massive osteolysis and its sequelae, rarely leads to spinal deformity/instability and neurological deficits. Here, we report a 12-year-old female who was diagnosed and treated for GSD.
Case Description: A 12-year-old female presented with back pain, and the inability to walk, sit, or stand attributed to three MR/CT documented L2-L4 lumbar vertebral collapses. Closed biopsies were negative. However, an open biopsy diagnosed GSD. She underwent a dorsal-lumbar-to-pelvis fusion (i.e., T5-T12 through L5/S1/S2) using multilevel pedicle screw/rod stabilization and human leukocyte antigens (HLAs) matched allograft (i.e. from her father). Postoperatively, she was treated with “off-label” teriparatide injections, bisphosphonates, and sirolimus. Four years later, while continuing the bisphosphonate therapy, she remained stable.
Conclusion: Surgical multirod stabilization from T5 to S2, supplemented with HLA compatible allograft, and multiple medical “off-label” therapies (i.e., teriparatide, sirolimus, and bisphosphonates) led to a good 4-year outcome in a 12-year-old female with GSD.
Keywords: Gorham-Stout, Osteolysis, Paraparesis, Sirolimus, Teriparatide, Vanishing
Gorham-Stout disease (GSD), often called vanishing bone disease, rarely involves the spine. When the spine is involved, it typically results in spinal deformity contributing to significant neurological deficits. With GSD, fibrovascular tissue usually replaces bone resulting in bone resorption and destruction.[
A 12-year-old female had been bedridden for the past 2 months due to low back pain; however, her neurological examination was normal. X-rays revealed a lumbar spine deformity characterized by L2-L4 vertebral lysis [
Plain lateral radiograph of the patient depicting gross lumbar kyphosis. There is a loss of multiple lumbar vertebrae architecture evident in the radiographs. The overall lumbar lordosis is around 30° but there is gross instability due to loss of multiple lumbar vertebral bodies. The sagittal vertebral axis is shifted around “−3 cm.”
She underwent a percutaneous vertebral biopsy twice that proved inconclusive. An open biopsy finally confirmed the diagnosis of GSD. A spinopelvic fusion was performed from T5 to T12 through the L5/S2 levels using anchors to the pelvis and S2 alar/iliac screws (i.e., supplemented with a four-rod cobalt chrome construct and cross-links) [
The open biopsy confirmed the classical findings of GSD that included lymphatic and vascular tissue in the bone with multiple dilated sinusoids, hemorrhagic changes, mononuclear/lymphocytic infiltration, fibrous tissue, and dead bone. In addition, the fluid aspirate showed chyle-like fluid. Further, the D2–40 immunohistochemistry was positive.
Adjunctive medical management
Adjunctive postoperative medical management included the administration of calcium, Vitamin D supplementation, the “off-label” use of calcitonin nasal spray for 2 months, teriparatide injections (20 units/day) for 6 months, yearly zoledronic therapy (4 mg infusion, after 2 months), and sirolimus therapy (1 mg twice a day with blood levels monitoring introduced at 3 postoperative months by the nephrologists).
Four years postoperatively, she continues to demonstrate no disease progression and is ambulatory. She stopped sirolimus after 3 postoperative years but has continued oral bisphosphonates. Both the CT and MR studies continue to confirm remission of GSD; the CT scan shows bony bridging/ fusion/stability, while the MRI demonstrates no new vertebral bony reformation [
Differential diagnosis of GSD
Heffez et al. described features that can differentiate GSD from other diseases. This typically requires evidence of; a positive GSD biopsy/positive immunologic testing with bone destruction/osteolysis, in the absence of dystrophic calcification, ulcerative lesions, visceral involvement, neoplastic, metabolic, or infectious lesions.[
Clinical features of GSD
Common clinical features of spinal GSD include localized pain, fractures, and paresthesias, functional neurological impairment/deficits/paralysis, and respiratory distress.[
Treatment of GSD
There are three major options for treating GSD: (1) surgical stabilization, (2) radiation therapy, and/or (3) medical management.[
Postoperative follow-up of GSD
We followed the patient’s postoperative course for last 4 years with sequential MR and CT studies. Vascular endothelial growth factor A and C are other proven marker that can confirm remission.[
A 12-year-old female with GSD sustained an excellent 4-year postoperative outcome/remission following a multirod T5-S1/S2 fusion supplemented with HLA compatible allograft and the utilization of several “off-label” medical therapies (i.e., including teriparatide, sirolimus, and bisphosphonate).
The authors certify that they have obtained all appropriate patient consent.
There are no conflicts of interest.
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