563 - Rehabilitation and Sirolimus Therapy to Treat Gorham-Stout Disease of the Spine: A Case Report

Case Diagnosis: Gorham-Stout Disease (GSD) of the spine with Chiari 1 malformation and associated syringomyelia refractory to corrective spine surgeries.

Case Description: A 28-year-old male with myelopathy due to GSD underwent two surgical corrections of kyphoscoliosis and suboccipital decompression for lower extremity weakness. He was able to walk post-operatively but 3 weeks later experienced acute worsening of weakness, back pain, and lower extremity numbness. Sirolimus was prescribed, and he completed twelve sessions of physical therapy with significant symptom improvement. Six years later, the patient had acute relapse of lower extremity weakness and pain. He had osteomyelitis with thoracolumbar hardware failure, necessitating revision surgery and antibiotics. Sirolimus was held for infection. On admission to inpatient rehabilitation, the patient had full lower extremity strength but difficulty walking due to painful spasms. He also developed exertional dyspnea due to acute on chronic pleural effusions from thoracic spine and inferior rib osteolysis after surgery that improved over time. He continued physical therapy for one month with resolution of pain and ability to walk independently again.

Discussions: This is only the third reported case, to our knowledge, of GSD of the spine treated with sirolimus and surgical intervention. Though thoracolumbar surgery was necessary to address his kyphoscoliosis, the patient’s resultant hardware failure and osteomyelitis demonstrated the difficulty in controlling GSD of the spine with surgery alone. Considering how craniocervical decompression did not improve his myelopathy until sirolimus and physical therapy were started, early initiation of non-surgical interventions may be considered to prevent the progression of GSD before serious complications such as tonsillar herniation and pleural effusions arise.

Conclusions: The natural course of GSD varies and its enigmatic treatment response poses a challenge for medical providers. This case emphasizes how individualized systemic therapy and comprehensive interdisciplinary rehabilitation can maximize functional recovery and prevent serious complications of GSD of the spine.