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Blue rubber bleb nevus syndrome in a 10-year-old child treated with loop ligation facilitated by double-balloon enteroscopy.

ABSTRACT:

SUBMITTER: Lazaridis N

PROVIDER: S-EPMC7482362 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Blue rubber bleb nevus syndrome in a 10-year-old child treated with loop ligation facilitated by double-balloon enteroscopy.

Lazaridis Nikolaos N Murino Alberto A Koukias Nikolaos N Kiparissi Fevronia F Despott Edward J EJ

VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy 20200624 9

PMID: 32954102

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Blue rubber bleb nevus syndrome: a single-center case series in 12 years.

Project description:BackgroundBlue rubber bleb nevus syndrome is a rare congenital disease characterized by multiple venous malformations in skin and gastrointestinal tract, not all patients have typical cutaneous lesions, refractory anemia may be the only clinical symptom, it is easy to miss diagnosis.MethodsA retrospective single center study was conducted on 8 patients with blue rubber bleb nevus syndrome from 2009 to 2021. Data were analyzed including clinical feature, diagnostic workup and results, gene detection, treatment and follow-up.ResultsFive children (62.5%) developed the disease in infancy, which initial symptoms were all cutaneous venous malformations. All children had chronic refractory anemia and gastrointestinal bleeding. Cutaneous lesions were observed in 87.5%, 1 child had multiorgan involvement. Gastrointestinal venous malformations were observed in 100%, lesions were more common in small intestine than in stomach or colon. No somatic mutation in TEK was found in our children. Diagnostic interval was on average 4.7 years. Eighty-seven-point-five percent children received at least one endoscopic or surgical intervention, however, those methods could not eradicate all the lesions and prevent relapse. Two children treated with sirolimus for more than 8 years, only 1 have satisfactory therapeutic effect. Besides, I child has growth retardation and emotional problems during follow-up.ConclusionsBlue rubber bleb nevus syndrome needs to be considered when find bluish nodular cutaneous lesions, chronic anemia or gastrointestinal bleeding of unknown origin. Capsule endoscopy is the most sensitive in diagnosing of this disease. Oral sirolimus at a relatively low dosage is effective, further comprehensively studies are required to evaluation of its efficacy, safety and the optimal dosage about the children.

| S-EPMC8649602 | biostudies-literature

Blue Rubber Bleb Nevus Syndrome With Multiple Cavernoma-Like Lesions on MRI: A Familial Case Report and Literature Review.

Project description:Blue rubber bleb nevus syndrome (BRBNS), also called Bean's syndrome, is a rare disease associated with multiple venous malformations in the skin and gastrointestinal (GI) tract. Dermatological lesions, which are the first clinically visible manifestations, appear as skin-colored compressible protuberances or as dark-blue venous nodules, rubbery in consistency. Central nervous system (CNS) manifestations are rare, variable, non-specific, and tend to occur late in the disease, mainly reported as seizures and focal neurological deficits secondary to compression. Most cases occur sporadically, however, an autosomal dominant inheritance pattern has been reported. A 74-year-old male with history of focal epilepsy secondary to possible neurocysticercosis presented at the emergency department due to sudden onset of aphasia, left central facial paralysis, and dysphagia secondary to catastrophic intracerebral hemorrhage. Cerebral MRI showed multiple cerebral cavernous malformations (CCM)-like lesions and, on the general exploration, multiple dark-blue nodules, rubbery in consistency. One week later he died due to complicated pneumonia; a brain autopsy was performed showing multiple vascular malformations. His son had a history of focal epilepsy presumed to be related to neurocysticercosis. He had the same skin lesions and brain MRI pattern. Histological analysis of the skin lesions of the two cases showed venous vascular malformations. A non-systematic review was carried out, in which all case reports of blue nevus syndrome with neurological manifestations in adults were included.

| S-EPMC7154106 | biostudies-literature

Blue Rubber Bleb Nevus Syndrome with Long-Term Follow-Up: A Case Report and Review of the Literature.

Project description:Blue rubber bleb nevus syndrome (BRBNS) is a rare disease in which venous malformations (VMs) involve any body organ, most commonly the skin and the gastrointestinal (GI) tract. Treatment of BRBNS aims at preserving the GI tract as much as possible. Although there are several dozen case reports about BRBNS that describe short-term clinical courses, a few provide an account of long-term clinical course. Here, we report a case of BRBNS in a girl that required multiple abdominal surgeries due to the GI VMs and a recurrence at an interval of 14 years. The preferred approach for gastrointestinal VMs involves the complete resection of all lesions without residual VMs. It is important to bear in mind the possibility of delayed recurrence of GI VMs after surgical or endoscopic treatment.

| S-EPMC6286777 | biostudies-other

Successful endoscopic sclerotherapy with bile duct stenting for a vascular malformation neighboring the duodenal papilla in blue rubber bleb nevus syndrome.

Project description:A 14-year-old girl, who had been diagnosed with blue rubber bleb nevus syndrome, was referred to our hospital because of iron deficiency anemia. Esophagogastroduodenoscopy revealed a dark and red-colored vascular malformation occurring just above the duodenal papilla. Because the lesion was regarded as the cause of the anemia, we performed polidocanol injection therapy with bile duct stenting. Since esophagogastroduodenoscopy performed a month later revealed a scarred ulcer, the bile duct stent was removed. She has been under observation as an outpatient without any symptoms.

| S-EPMC9302048 | biostudies-literature

[Clinical effect of sirolimus in treatment of blue rubber bleb nevus syndrome in children: a report of 2 cases and literature review].

Project description:To study the clinical effect of oral sirolimus in the treatment of children with blue rubber bleb nevus syndrome (BRBNS) in the gastrointestinal tract, a retrospective analysis was performed on the clinical data and follow-up results of two children with BRBNS treated by sirolimus. The two children with BRBNS had gastrointestinal bleeding and anemia and were treated with sirolimus at a dose of 1 mg/day as part of treatment. The plasma concentration of the drug was maintained between 2.5-12.0?ng/mL. The children showed disappearance of gastrointestinal bleeding and improvements in anemia and coagulation function, and blood transfusion could be stopped during treatment, with no obvious adverse drug reactions. PubMed, Wanfang Data, and CNKI were searched for related articles on sirolimus in the treatment of BRBNS. A total of 26 cases of children with BRBNS, aged 0-18 years, were obtained. With the addition of the 2 cases in this study, sirolimus treatment achieved a satisfactory clinical effect in all 28 cases. Sirolimus may be effective and safe in the treatment of children with BRBNS, and further prospective studies are needed to evaluate the long-term efficacy of this drug.

| S-EPMC7499453 | biostudies-literature

Blue rubber bleb naevus syndrome: a rare cause of chronic occult blood loss and iron deficiency anaemia.

Project description:Blue rubber bleb naevus syndrome (BRBNS) is a rare vascular disorder with malformed veins, or blebs, appearing in the skin or internal organs. Gastrointestinal tract involvement is the most common feature and often subject to bleeding, potentially resulting in chronic occult blood loss and iron deficiency anaemia. We present the case of a 10-year-old boy with venous malformations on the feet and severe anaemia. Although massive sudden haemorrhage rarely occurs, awareness of the illness is necessary to prevent complications.

| S-EPMC5174816 | biostudies-other

Migrated esophageal stent retrieved via oral double-balloon enteroscopy.

Project description: Not available

| S-EPMC5990865 | biostudies-literature

Comparison of the Efficacy and Safety of Single- versus Double-Balloon Enteroscopy Performed by Endoscopist Experts in Single-Balloon Enteroscopy: A Single-Center Experience and Meta-Analysis.

Project description:Background/aimsStudies concerning the efficacy and safety of single-balloon enteroscopy (SBE) compared with that of double-balloon enteroscopy (DBE) often appear to be conflicting. However, previous studies were performed by endoscopists who were less experienced in SBE compared with DBE.MethodsWe performed a retrospective analysis of SBE and DBE data performed by a single enteroscopist, with expertise in SBE, using a prospective balloon-assisted enteroscopy registry from 2013 to 2015. Furthermore, we performed a comprehensive literature search and meta-analysis of available studies, including the current study, to clarify the efficacy and safety of SBE versus DBE.ResultsA total of 65 procedures in 44 patients with SBE and 74 procedures in 69 patients with DBE were analyzed. There were no significant differences in diagnostic yield (61.1% vs 77.3%, respectively, p=0.397), therapeutic yield (39.1% vs 31.8%, respectively, p=0.548), and complication rate (4.4% vs 2.3%, p=1.000). In the meta-analysis, which included four randomized controlled trials and three observational studies, there were no significant differences in the pooled relative risk and odds ratio for diagnostic and therapeutic yield and complications of SBE compared with those of DBE.ConclusionsThe performance of SBE appears to be similar to that of DBE in terms of diagnostic and therapeutic yield and complications.

| S-EPMC5491087 | biostudies-literature

Large Jejunal Phytobezoar with Small Bowel Obstruction Treated by Single-Balloon Enteroscopy.

Project description: Not available

| S-EPMC8995995 | biostudies-literature

Comparison of patients' tolerance between computed tomography enterography and double-balloon enteroscopy.

Project description:BackgroundComputed tomography enterography (CTE) and double-balloon enteroscopy (DBE) are widely used in diagnosis of small bowel diseases. Both of these examinations bring discomfort to patients. The aim of this study was to compare patients' tolerance and preference between CTE and DBE.MethodsFrom August 1, 2014 to December 31, 2016, patients with suspected or known small bowel diseases who underwent both CTE and DBE were prospectively enrolled in our study. They were asked to fill out a questionnaire evaluating discomfort of the procedure after each examination.ResultsOne hundred and seven patients completed our study. Abdominal distension, painfulness, tenesmus, general discomfort, prolonged duration, difficulty in completing the test, and discomfort after the examination were significantly lower with CTE than with DBE (P<0.001, respectively). Mannitol intake (47.7%), bowel preparation (31.9%), and radiation exposure (15.0%) were regarded as the three most intolerable burdens in CTE. Painfulness (38.3%), bowel preparation (26.2%), and invasiveness (16.8%) were considered as the three most unacceptable parts of DBE. More patients (61.7%) preferred to repeat CTE rather than DBE (P<0.001).ConclusionCompared to DBE, CTE was a more tolerable and less burdensome examination and enjoyed higher preference by most patients.

| S-EPMC5652905 | biostudies-literature

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