Abstract | BACKGROUND: CASE PRESENTATION: We presented a 1-year-old boy with GSD involving osteolysis of the right humerus with fracture of the left femur complicated by an effusion in the right pleural cavity. X-rays showed osteolysis in the right clavicle. A large pleural effusion was observed on the right-side, and the left lung was significantly compressed. X-rays also showed a fracture of the left femur. A femoral biopsy was performed that showed necrotic tissue in the cortical bone and a large number of irregularly shaped capillaries that proliferated within the necrotic tissue. Dilated lymphatic vessels were seen adjacent to the cortex, with fibrous tissue hyperplasia. We prescribed sirolimus, which is an oral mTOR inhibitor, for two consecutive years. The boy recovered well without other progressive bone lesions and participates in normal daily activities. His growth and development are the same as that of his peers. DISCUSSION AND CONCLUSION:
Gorham-Stout disease is a rare and enigmatic disease characterized by the presentation of an intraosseous lymphatic anomaly (LM), which results in progressive bone resorption. Based on this case report and a literature review, we conclude that sirolimus may be an effective alternative medication for GSD.
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Authors | Yu Liang, Ruicheng Tian, Jing Wang, Yuhua Shan, Hongxiang Gao, Chenjie Xie, Jingjing Li, Min Xu, Song Gu |
Journal | BMC musculoskeletal disorders
(BMC Musculoskelet Disord)
Vol. 21
Issue 1
Pg. 577
(Aug 25 2020)
ISSN: 1471-2474 [Electronic] England |
PMID | 32843029
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
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Topics |
- Bone and Bones
- Humans
- Infant
- Male
- Osteolysis
- Osteolysis, Essential
(diagnostic imaging, drug therapy)
- Radiography
- Sirolimus
(therapeutic use)
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