Medicine · 2022
Treatment of sirolimus in the pathological femoral fracture related to blue rubber bleb nevus syndrome: A case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Chang Yu-Jui, Ko Jih-Yang, Sheen Jiunn-Ming, Siu Ka-Kit
Аннотация
RATIONALE: Blue rubber bleb nevus syndrome (BRBNS) is a rare condition with characteristic vascular malformations of the skin, most frequently lesions of the gastrointestinal tract and central nervous system, and less often, the musculoskeletal system. We report a 5-year case of BRBNS complicated with pathological femoral fracture that was successfully treated with sirolimus.
PATIENT CONCERNS: We report the case of a 1-week-old girl with a diagnosis of BRBNS who had multiple venous malformations over her body. She also presented with right lower-limb swelling and complicated with a pathological femoral fracture.
DIAGNOSES: BRBNS with the complication of pathological femoral fracture.
INTERVENTIONS: Treatment with low-dose sirolimus as an antiangiogenic agent was administered, combined with hip spica protection.
OUTCOMES: The vascular lesion was reduced after about 6 months and the fracture site had healed around 2.5 years after initiation of sirolimus therapy. There were no drug adverse effects at the 5-year follow-up point. The patient showed excellent spirit and no obvious sequelae were found.
LESSONS: To the best of our knowledge, this is the first report of the successful use of sirolimus in a patient with a pathological femoral fracture related to BRBNS complications.
PATIENT CONCERNS: We report the case of a 1-week-old girl with a diagnosis of BRBNS who had multiple venous malformations over her body. She also presented with right lower-limb swelling and complicated with a pathological femoral fracture.
DIAGNOSES: BRBNS with the complication of pathological femoral fracture.
INTERVENTIONS: Treatment with low-dose sirolimus as an antiangiogenic agent was administered, combined with hip spica protection.
OUTCOMES: The vascular lesion was reduced after about 6 months and the fracture site had healed around 2.5 years after initiation of sirolimus therapy. There were no drug adverse effects at the 5-year follow-up point. The patient showed excellent spirit and no obvious sequelae were found.
LESSONS: To the best of our knowledge, this is the first report of the successful use of sirolimus in a patient with a pathological femoral fracture related to BRBNS complications.