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.
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.
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.
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.
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.
Project description:Background and aimsGastrointestinal endoscopy can be difficult for patients to tolerate. Studies on endoscopic tolerability mainly focus on gastroscopy or colonoscopy with a paucity of data on double balloon enteroscopy (DBE). We aimed to prospectively evaluate tolerability in patients undergoing several forms of endoscopy including DBE.MethodsConsecutive patients undergoing colonoscopy, flexible sigmoidoscopy, gastroscopy, endoscopic retrograde pancreatography (ERCP), capsule endoscopy (CE) and DBE were prospectively recruited. A questionnaire recorded demographics, procedural data, patient tolerability (pain, discomfort and distress recorded on numerical rating scales) and the Hospital Anxiety and Depression Scale (HADS).Results956 patients were recruited (512 women; median age 57 years). The median pain score for DBE was poor with a score of 5 compared with 1 and 0 for oesophagogastroduodenoscopy and ERCP, respectively (p<0.001). Colonoscopy and retrograde DBE scores were not dissimilar. CE was well tolerated with a median pain score of 0. Patients with DBE required significantly higher doses of sedation and analgesia than other patients. The HADS Anxiety Score was also associated with poorer tolerability.ConclusionsDBE is poorly tolerated when compared with other forms of endoscopy despite higher doses of sedation. Increasing demand to improve tolerability of DBE in the UK may be addressed with the use of propofol.
Project description:Video 1Percutaneous cholangioscopy was performed to confirm complete closure of the choledochojejunostomy. Percutaneous cholangioscopy revealed complete closure of the anastomosis. Our attempt to pass a guidewire through the anastomosis failed accordingly.
Project description:Blue nevi are melanocytic tumors originating in the cutaneous dermis. Malignant tumors may arise in association with or resembling blue nevi, so called 'blue nevus-like melanoma', which can metastasize and result in patient death. Identifying which tumors will behave in a clinically aggressive manner can be challenging. Identifying genetic alterations in such tumors may assist in their diagnosis and prognostication. Blue nevi are known to be genetically related to uveal melanomas (eg, both harboring GNAQ and GNA11 mutations). In this study, we analyzed a large cohort (n=301) of various morphologic variants of blue nevi and related tumors including tumors diagnosed as atypical blue nevi (n=21), and blue nevus-like melanoma (n=12), screening for all gene mutations known to occur in uveal melanoma. Similar to published reports, we found the majority of blue nevi harbored activating mutations in GNAQ (53%) or GNA11 (15%). In addition, rare CYSLTR2 (1%) and PLCB4 (1%) mutations were identified. EIF1AX, SF3B1, and BAP1 mutations were also detected, with BAP1 and SF3B1 R625 mutations being present only in clearly malignant tumors (17% (n=2) and 25% (n=3) of blue nevus-like melanoma, respectively). In sequencing data from a larger cohort of cutaneous melanomas, this genetic profile was also identified in tumors not originally diagnosed as blue nevus-like melanoma. Our findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue nevus-like melanoma from conventional epidermal-derived melanomas. Future studies will need to further elucidate the prognostic implications and appropriate clinical management for patients with tumors harboring these mutation profiles.
Project description:Single-balloon enteroscopy (SBE) is a novel, deep-enteroscopy modality for diagnosis and treatment of disorders of the small bowel.The aim of the study was to examine the performance, yield, and safety of SBE in the initial experience at a tertiary-care center.Retrospective analysis of all SBEs during a 10-month period in 2008. Data were extracted from electronic clinical and endoscopy records.U.S. tertiary-care center.All patients referred to our center for SBE during the study period were included in the current analysis.SBE.Anterograde SBE procedure time, diagnostic yield, and complications.Thirty-eight anterograde SBEs were performed. The mean patient age was 62 years (42% female). Patients were referred for GI bleeding (97%), Crohn's disease, suspected polyps or neoplasia, and abnormal capsule endoscopy results. The mean (+/- SD) procedure time was 49 +/- 19 minutes. The estimated depth of insertion was proximal jejunum (34%), mid-jejunum (45%), and distal jejunum (21%). The SBE diagnostic yield was 47%, with significant findings in 18 patients. Findings included angiectasias, bleeding, abnormal mucosa, ulceration, polyps, and a foreign body. The therapeutic yield was 42%, with lesion ablation performed in 24% of cases. Diagnostic biopsies were performed in 24% of cases and tattooing in 52%. There were no significant complications.Single-center, retrospective study.Single-balloon enteroscopy appears to be a safe and efficient method for examination of the mid-small bowel. The significant therapeutic yield (42%) suggests that comparative studies with double-balloon and spiral enteroscopy are warranted.
Project description:ObjectivesBalloon-assisted enteroscopy (BAE) is increasingly used for the evaluation of small bowel disorders. We quantified local diagnostic and therapeutic yields of BAE in patients with suspected small bowel diseases.MethodsAdult patients undergoing BAE between January 2010 and July 2015 at McGill University Health Centre were included. Procedures were identified using a prospectively maintained database. Patients were excluded if procedure report was unavailable. Electronic medical records were reviewed. Analyses were restricted to patients who did not have a previous BAE.ResultsBAE was performed in 453 patients, including 421 anterograde cases. Patients had a mean age of 61.0 ± 17.5 years. Most common indications for referral were obscure gastrointestinal bleeding (OGIB) (n=207, 45.7%), abnormal imaging (n=88, 19.4%), suspected small bowel neoplasia (SBN) (n=39, 8.6%) and Crohn's disease (CD) (n=31, 6.8%). A diagnosis was established in 216 procedures (47.7%). A pre-endoscopic indication of CD (odds ratio [OR]: 3.78; 95% Confidence Interval [CI], 1.60-8.90), OGIB (OR: 3.69, 95% CI, 2.03-6.71), suspected SBN (OR: 2.45; 95% CI, 1.06-5.65) and previous VCE (OR: 9.33; 95% CI, 3.24-26.90) were associated with abnormal findings. A therapeutic procedure was performed in 126 cases (28.3%). OGIB (OR: 7.00; 95% CI, 3.83-12.81), previous video capsule endoscopy (VCE) (OR: 7.86; 95% CI, 2.93-21.04) and suspected SBN (OR: 6.30; 95% CI, 2.58-21.04) were associated with performance of a therapeutic intervention. Complication rate was 1.6%, with bleeding in seven cases and one perforation.ConclusionsIn carefully selected patients, such as those with OGIB, Crohn's disease and previous VCE, BAE was a safe procedure that led to the identification of abnormal findings and therapeutic interventions.