Favorable Response to Sirolimus in a Child With Blue Rubber Bleb Nevus Syndrome in the Gastrointestinal Tract.
Recently, sirolimus was demonstrated to be effective in treating vascular lesions and lessening the frequency of bleeding and secondary iron deficiency anemia. We present a child with blue rubber bleb nevus syndrome who had prolonged history of iron deficiency anemia secondary to unrecognized gastrointestinal bleeding. Treatment with propranolol, omeprazole and iron had failed. After 2.5 months of sirolimus therapy (trough levels 1 to 5 ng/mL), his hemoglobin concentration improved into the normal range and remained stable. Vascular malformations on both the patient's tongue and in the fundus of his stomach shrank within 5 months of the initiation of sirolimus. In gastrointestinal involvement of blue rubber bleb nevus syndrome sirolimus was found to be effective even in the tongue's vascular lesions.
Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey.
Aysel
A
Ünlüsoy Aksu
Sinan
S
Sari
Ödül
Ö
Eğritaş Gürkan
Buket
B
Dalgiç
D000015:Abnormalities, Multiple; D018798:Anemia, Iron-Deficiency / Q000209:etiology; D002648:Child; D003241:Consanguinity; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D005770:Gastrointestinal Neoplasms / Q000150:complications / Q000188:drug therapy*; D006344:Heart Septal Defects, Atrial / Q000150:complications; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000188:drug therapy*; D018329:Nevus, Blue / Q000150:complications / Q000188:drug therapy*; D019226:Oral Ulcer / Q000139:chemically induced; D020123:Sirolimus / Q000009:adverse effects / Q000627:therapeutic use*; D012878:Skin Neoplasms / Q000150:complications / Q000188:drug therapy*; D014062:Tongue Neoplasms / Q000188:drug therapy
D020123:Sirolimus