Background: Gorham-Stout disease (GSD) is a rare disease characterized by osteolysis and lymphatic malformations. GSD involving the spine is exceptionally rare and lacks a standard cure. The aim of this article was to report a case of GSD with scoliosis treated via corrective surgery and medication. Clinical features, imaging data, treatment, and published GSD cases are discussed.
Case presentation: : We report the case of a 14-year-old male with GSD (confirmed by pathology and genetic analysis of bone tissue due to a previous fracture), which mainly involved the spine and caused progressive scoliosis. Scoliosis was defined as a right upper thoracic curve with a Cobb angle of 61° and a left major thoracic curve with a Cobb angle of 50°. Preoperative magnetic resonance imaging of the spine in the T2-weighted phase showed wedge-shaped changes in T4-9, with substantial high signal and no intradiscal abnormalities. The patient successfully underwent scoliosis correction from T2-L2. After surgery, the patient was treated with sirolimus for osteoporosis, and the effect of the scoliosis correction remained stable after 2 years of follow-up. This case documented the rare phenomenon of spinal lamina chylous leakage caused by GSD. Corrective surgery combined with sirolimus achieved good results in the treatment of scoliosis caused by GSD.
Conclusion: This study provides an important reference for the diagnosis and treatment of GSD involved with spine.
Keywords: Case report; Diagnosis; Gorham-stout disease; Scoliosis; Sirolimus; Surgery.
© 2024. The Author(s).