ABSTRACT
Blue Rubber Bleb Nevus syndrome is a rare disorder characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause episodes of occult gastrointestinal haemorrhage and iron deficiency anaemia. We describe an 8-year-old girl who had multiple cutaneous venous malformations since birth. She also suffered from several episodes of severe chronic iron deficiency anaemia and required blood transfusions. To evaluate the presence of gastrointestinal bleeding secondary to intestinal angiomatosis, we decided to perform 99mTc-labelled red blood cell scintigraphy, which confirmed cutaneous venous malformations and also showed gastrointestinal vascular lesions that suggested the diagnosis of Blue Rubber Bleb Nevus Syndrome.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Angiomatosis/diagnostic imaging , Erythrocytes , Intestinal Diseases/diagnostic imaging , Nevus, Blue/diagnostic imaging , Radiopharmaceuticals , Skin Neoplasms/diagnostic imaging , Technetium , Anemia, Iron-Deficiency/etiology , Angiomatosis/complications , Capsule Endoscopy , Child , Diagnosis, Differential , Esophageal Neoplasms/complications , Esophageal Neoplasms/diagnostic imaging , Female , Foot Diseases/etiology , Gastrointestinal Hemorrhage/diagnostic imaging , Gastrointestinal Hemorrhage/etiology , Gastrointestinal Neoplasms/complications , Gastrointestinal Neoplasms/diagnostic imaging , Hemangioma/diagnostic imaging , Humans , Intestinal Diseases/complications , Intestinal Polyps/complications , Intestinal Polyps/diagnostic imaging , Lymphangioma, Cystic/diagnostic imaging , Radionuclide Imaging , Radiopharmaceuticals/administration & dosage , Syndrome , Technetium/administration & dosageABSTRACT
El síndrome de Blue Rubber Bleb Nevus (BRBNS) es una rara enfermedad que se caracteriza por múltiples malformaciones venosas (cutáneas y gastrointestinales) asociadas a episodios de sangrado gastrointestinal, generalmente oculto, y anemia ferropénica. Se presenta el caso de una niña de 8 años de edad que desde los primeros meses de vida presentó angiomas cutáneos y numerosos episodios de anemia ferropénica grave que requirió transfusiones en varias ocasiones. Ante la sospecha de angiomatosis intestinal por hemorragia digestiva, se le solicitó una gammagrafía con hematíes marcados con 99mTc, que evidenció las lesiones vasculares intestinales y, a su vez, confirmó las ya conocidas a nivel cutáneo, llegándose al diagnóstico de BRBNS (AU)
Blue Rubber Bleb Nevus syndrome is a rare disorder characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause episodes of occult gastrointestinal haemorrhage and iron deficiency anaemia. We describe an 8-year-old girl who had multiple cutaneous venous malformations since birth. She also suffered from several episodes of severe chronic iron deficiency anaemia and required blood transfusions. To evaluate the presence of gastrointestinal bleeding secondary to intestinal angiomatosis, we decided to perform 99mTc-labelled red blood cell scintigraphy, which confirmed cutaneous venous malformations and also showed gastrointestinal vascular lesions that suggested the diagnosis of Blue Rubber Bleb Nevus Syndrome (AU)
