Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare venous malformation disorder. Currently, there is no standard therapy for this disease. However, lauromacrogol, a sclerosant extensively utilized in the management of vascular malformations, has been applied in the treatment of BRBNS. Research on the combined therapy of sirolimus and lauromacrogol for the treatment of BRBNS remains limited.
Case Summary: Here, we report the case of a 12-year-old girl diagnosed with BRBNS. The patient presented with chronic anemia and skin "hemangioma." The examinations showed severe anemia, along with decreased serum iron and ferritin levels. Magnetic resonance imaging showed abnormal nodular lesions in various parts of the intestine. The patient was treated with a combination of endoscopic sclerotherapy using lauromacrogol and oral sirolimus. After 1 year of treatment, the patient showed no signs of anemia or gastrointestinal tract bleeding.
Conclusion: BRBNS is a rare disorder that is often misdiagnosed, especially by inexperienced pediatricians. The combination of oral sirolimus with endoscopic lauromacrogol has demonstrated efficacy in reducing lesion size and elevating hemoglobin levels.
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| http://dx.doi.org/10.3389/fped.2024.1488466 | DOI Listing |
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