Gorham-Stout disease: A multirod lumbar reconstruction with off-label suppression-remission therapy

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. 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. 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.