Blue rubber bleb nevus syndrome with late onset of central nervous system symptomatic involvement

Tomelleri, Giampaolo; Cappellari, Manuel; Matteo, Alessandro Di; Zanoni, Tiziano; Colato, Chiara; Bovi, Paolo; Moretto, Giuseppe

doi:10.1007/s10072-010-0250-4

Cited by 13 publications

(6 citation statements)

References 18 publications

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“…Brain lesions can cause cranial neuropathy; therefore, presymptomatic evaluation of the brain, such as magnetic resonance imaging, is necessary [8]. The skin lesions usually do not cause problems aside from cosmetic concerns [2].…”

Section: Discussionmentioning

confidence: 99%

Radical resection of intestinal blue rubber bleb nevus syndrome

Choi

Kim

et al. 2012

J Korean Surg Soc

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Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic vascular disorder characterized by multiple venous malformations involving many organs. BRBNS can occur in various organs, but the most frequently involved organs are the skin and gastrointestinal (GI) tract. GI lesions of BRBNS can cause acute or chronic bleeding, and treatment is challenging. Herein, we report a case of GI BRBNS that was successfully treated with a combination of intraoperative endoscopy and radical resection.

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Section: Discussionmentioning

confidence: 99%

Radical resection of intestinal blue rubber bleb nevus syndrome

Choi

Kim

et al. 2012

J Korean Surg Soc

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“…Once treated right colic teleangiectasias and excluded acute bleeding of bluish lesions in small intestine, we decided to carry on with warfarin maintaining acceptable levels of Hb. This patient was the oldest subject (83 years old) reported in literature [2] that presented with BRBNS and concomitant chronic anemia. BRNBS develops sporadically, but there are forms inherited with an autosomal dominant pattern involving chromosome 9p [3].…”

Section: Discussionmentioning

confidence: 96%

Anemia Due to Inflammation in an Anti-Coagulated Patient with Blue Rubber Bleb Nevus Syndrome

Bonaventura¹,

Liberale²,

N³

et al. 2016

Clin. Lab.

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Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by vascular malformations mostly involving skin and gastrointestinal tract. This disease is often associated with sideropenic anemia and occult bleeding. Methods: We report the case of chronic severe anemia in an old patient under oral anticoagulation treatment for chronic atrial fibrillation. Results: At admission, the patient also presented fever and increased laboratory parameters of systemic inflammation (ferritin 308 mcg/L, C-reactive protein (CRP) 244 mg/L). A small bluish-colored lesion over the left ear lobe was observed. Fecal occult blood test was negative as well as other signs of active bleeding. Lower gastrointestinal endoscopy revealed internal hemorrhoids and multiple teleangiectasias that were treated with argon plasma coagulation. Videocapsule endoscopy demonstrated multiple bluish nodular lesions in the small intestine. Unexpectedly, chronic severe anemia due to systemic inflammation was diagnosed in an old anticoagulated patient with BRNBS. The patient was treated with blood transfusions, hydration, antibiotic treatment, and long-acting octreotide acetate, without stopping warfarin. Fever and inflammation disappeared without any acute gastrointestinal bleeding and improvement of hemoglobin levels at three-month follow up. Conclusions: This is the oldest patient presenting with chronic anemia, in which BRNBS was also diagnosed. Surprisingly, anemia was mainly caused by systemic inflammation instead of chronic gastrointestinal bleeding. However, we would recommend investigating this disease also in old subjects with mild signs and symptoms

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“…The long gap between disease onset and diagnosis suggests that this syndrome is poorly recognized. Early diagnosis, though, is extremely important as visceral involvement can lead to severe hemorrhagic complications . The cutaneous findings may be the only clue and should alert to potential internal malformations …”

Section: Discussionmentioning

confidence: 99%