Surgeries of Upper Cervical Spine Diseases
Sub-acute osteolysis is a rare finding in healthy individuals. Gorham disease is one disorder that causes unregulated bone resorption due to abnormal tissue growth. It has been known by various names and has been studied extensively, but its exact cause and mechanisms are still unclear.
Gorham disease exhibits diverse progression patterns depending on the individual, influenced by where it affects the skeleton and when it is diagnosed. The shoulder is the most frequently affected site, followed by the pelvis, ribs, and skull.
Spinal involvement, particularly in the cervical spine, is uncommon, with approximately 50 reported cases, out of which 17 primarily involve the cervical spine. Clinical outcomes vary considerably for cervical vertebrae cases, ranging from fatal complications caused by bone loss to the spontaneous halt of bone loss through conservative treatment.
The treatment of Gorham disease involves both medical and surgical approaches, with spinal involvement often requiring surgical fusion to maintain stability and prevent neurological damage. In the past, bone grafting in Gorham patients has had limited success due to graft osteolysis and inadequate graft integration
Literature has reported a case of a 31-year-old woman with a 7-year history of neck pain sought medical help due to a recent rapid worsening of pain, accompanied by bilateral hand numbness.
The numbness was most severe when she sat upright but improved when lying down. She had previously sought treatment for her chronic neck pain without success. No underlying medical conditions or family history could explain her symptoms.
The physical examination revealed the absence of posterior elements in the upper cervical spine. Neurological examination showed no abnormalities. Radiographic and imaging studies confirmed progressive osteolysis without a known cause, leading to a diagnosis of Gorham’s vanishing bone disease. Due to significant instability, immediate stabilization and fusion surgery were recommended.
The initial surgery involved posterior fusion and instrumentation from the occiput to T2, using autologous rib graft and bone grafting materials. This was done to address the large bony defect and prevent recurrence and progressive osteolysis. A subsequent staged surgery performed anterior discectomy and fusion from C2 to T2 using a combination of bone grafts and plates to enhance fusion success and provide additional stabilization.
After the surgery, the patient sought advice from a radiation oncologist but decided against radiation therapy. During the most recent follow-up after 6 years, a CT scan revealed a successful and stable fusion without any indications of disease progression or bone loss in or near the fused area.
Gorham disease, a rare disorder marked by bone loss, remains poorly understood despite thorough investigation. Its etiology remains elusive, and it can affect individuals of any gender and age, although it is frequently diagnosed before the age of 40.
The specific mechanisms underlying Gorham disease remain elusive, but it is characterized by the development of a lymphovascular network through spontaneous or post-traumatic angiomatosis. This network disrupts the normal balance of bone remodeling, resulting in increased bone resorption. Osteoclastosis and the release of interleukin-6 are believed to contribute to the destructive nature of the disease.
Gorham disease is diagnosed by excluding other causes of bone loss. Its clinical signs can be subtle and its presentation can vary. Early diagnosis is essential for improved patient outcomes.
Gorham disease frequently affects the shoulder and pelvis, but it can also affect other bones. The most severe consequences occur when the bony thorax and spine are involved, leading to increased morbidity and mortality.
Thoracic involvement can lead to complications like chylothorax, while spinal involvement can result in instability and neurological deterioration. Spinal fusion in Gorham disease is associated with challenges such as graft resorption, fusion failure, and unpredictable disease progression.
Surgical intervention is necessary for Gorham disease lesions that exhibit mechanical instability, while medically stable cases can be addressed through medical and radiation therapies. Treatment options encompass the use of bisphosphonates, alpha-interferon 2b, and cytotoxic agents.
Radiation therapy can be employed as an adjunctive measure following surgical resection to decelerate the progression of active Gorham lesions. In the case discussed, given the absence of disease recurrence or progression, the decision was made not to pursue radiation therapy.
Gorham disease rarely affects the cervical spine, but in this patient, it involved the C2 and/or C3 levels, which is uncommon. Cervical spine involvement at these levels carries a higher risk of mortality, as three out of five patients with this condition experienced fatal complications.
Mortality in these cases can be attributed to cord injury, cerebrovascular accidents, and complications arising from progressive bone loss and unsuccessful fusion attempts. However, achieving successful spinal fusion leads to favorable outcomes. In one case, early diagnosis combined with halo traction and radiation therapy effectively reversed the bone loss.
In conclusion, this case highlights the challenges of Gorham disease, particularly when it affects the upper cervical spine. Swift intervention is necessary to prevent neurological decline in cases of osteolytic cervical instability.
The recommended approach includes emergent circumferential fusion and maximal fixation to address severe instability and prevent neurological injury.
Gorham disease should be considered in patients with osteolytic cervical instability, even in the absence of a mass or infectious process. Comprehensive fixation and bone grafting are crucial for optimal healing due to the potential for local recurrence.
I am Vedant Vaksha, Fellowship trained Spine, Sports and Arthroscopic Surgeon at Complete Orthopedics. I take care of patients with ailments of the neck, back, shoulder, knee, elbow and ankle. I personally approve this content and have written most of it myself.
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