Erdheim-Chester Disease with Pancreatic Enlargement Observed Using Contrast-enhanced Endoscopic Ultrasonography.

We herein report an unusual case of Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, and emphasize its unique presentation and diagnostic challenges. Our patient exhibited uncommon symptoms and significant organ involvement, particularly pancreatic enlargement that is not typically associated with ECD. Contrast-enhanced harmonic endoscopic ultrasonography (CEH-EUS) and EUS-fine needle aspiration (EUS-FNA) play crucial roles in the comprehensive assessment of the disease, demonstrating their superiority in identifying and characterizing elusive ECD lesions. This is the first report to document pancreatic lesions in patients with ECD evaluated using CEH-EUS. EUS-FNA is valuable for diagnosing rare diseases, including ECD, with diffuse pancreatic enlargement.

[Pre-surgical diagnosis of neuroendocrine carcinoma of the extrahepatic bile duct: a case study].

A 70-year-old woman presented to our hospital with jaundice. Abdominal ultrasonography showed biliary duct dilatation. Blood tests revealed elevated total bilirubin and hepatobiliary enzyme levels. A contrast-enhanced computed tomography of the abdomen showed bile duct thickening with wall enhancement. Transpapillary bile duct biopsy showed an invasive carcinoma proliferating in a follicular pattern. Pathology revealed positive synaptophysin and chromogranin A and a Ki67 index >40%, consistent with a diagnosis of neuroendocrine carcinoma (NEC). After confirming the absence of distant metastases, a subtotal stomach-preserving pancreaticoduodenectomy was performed. The result of the postoperative pathology was the same as the preoperative biopsy. According to previous reports, 7 out of 28 cases with NEC/mixed adenoneuroendocrine carcinoma could be diagnosed as NEC before surgery. However, biliary cytology and bile duct scraping cytology were used in many cases;only 11 cases underwent bile duct biopsy. For the latter, 5 out of 11 cases could be diagnosed preoperatively. NEC of the extrahepatic duct often exhibits a submucosal tumor-like morphology, which may result in a false negative result with biliary cytology or bile duct scraping cytology. In our case, the transpapillary bile duct biopsy sample was sufficient to diagnose NEC. This method could be an attractive option for the diagnosis of these tumors.

Evaluation of radiation exposure dose at double-balloon endoscopy for the patients with small bowel disease.

UNLABELLED: Double-balloon endoscopy (DBE) is useful for the diagnosis and treatment of small bowel diseases. Although fluoroscopy is used to confirm the position of endoscope at DBE, the endoscopist does not have the knowledge with regard to the radiation exposure dose. In this study, we evaluated the absorbed dose during DBE in patients with suspected or established small bowel diseases. This was a retrospective study in which the estimated fluoroscopic radiation absorbed doses loaded on the small bowel and skin were determined according to the data of the referential X-ray experiment with a human body phantom. The subjects were 415 DBEs preformed in total. The mean small bowel absorbed doses on antegrade and retrograde DBEs were 42.2 and 53.8 mGy, respectively, showing that the organ dose applied in retrograde DBE was significantly higher (P<0.0001). The mean skin absorbed doses of them were 79.2 and 101.0 mGy, respectively, showing that the dose was also significantly higher on retrograde DBE (P<0.0001). Of 27 cases who were applied endoscopic balloon dilation, the mean fluoroscopy time was 16.0 minutes, and mean small bowel and skin absorbed doses were 121.9 and 228.9 mGy, respectively. In conclusion, endoscopist should be careful for reducing the organ exposure dose at DBE, particularly for the lower abdominal region. ABBREVIATIONS: Double-balloon enteroscopy (DBE), endoscopic balloon dilation (EBD), endoscopic mucosal resection (EMR), double-balloon endoscopic retrograde cholangiopancreatography (DBERCP), percutaneous coronary intervention (PCI).

Effectiveness of Endoscopic Ultrasonography during Double Balloon Enteroscopy for characterization and management of small bowel submucosal tumours.

BACKGROUND: Characterization of small bowel submucosal tumours is challenging, requiring additional investigations. Endoscopic Ultrasonography performed during Double Balloon Enteroscopy, appeared a promising technique although it has not been fully evaluated. The aim was to determine the effectiveness of this technique for characterization and management of sub mucosal tumours in a large cohort of patients. METHODS: Patients with suspected small bowel tumours, who underwent Endoscopic Ultrasonography performed during Double Balloon Enteroscopy in our Institution between 2005 and 2013, were reviewed. Demographic data, clinical, endoscopic and radiological findings, therapeutic management, final diagnosis and follow-up were analyzed. RESULTS: 30 patients (19 male; median age 61.5) affected by submucosal tumours were included in the study. Endoscopic Ultrasonography performed during Double Balloon Enteroscopy was successfully performed in all cases providing a correct characterization of 19 submucosal tumours (63%). Based on the ultrasonographic characteristics 8 patients were treated endoscopically, 16 were referred to surgery, and 6 were managed conservatively. CONCLUSION: Our results suggest that Endoscopic Ultrasonography performed during Double Balloon Enteroscopy is a safe and useful technique for submucosal tumours characterization. This procedure may be applied in clinical practice when small bowel tumours are encountered, to confirm the diagnosis and provide the most appropriate management.

Minimally invasive extraction of a foreign body from the small intestine using double-balloon endoscopy.

Double-balloon endoscopy (DBE) can be used to treat disorders of the small intestine and can also be used to retrieve foreign bodies from the small intestine without surgery. We describe the findings of 22 cases in which DBE was used to try and retrieve foreign bodies from the small intestine. The foreign bodies included 12 capsule endoscopes, 3 artificial teeth, 3 medical tubes, 2 worms, 1 press-through packet of medicine, and 1 intestinal stone. The retrieval success rate was 86.3% (19/22), and there were no complications related to the retrieval procedures. Snare forceps were the most useful device for grasping the foreign bodies, and DBE was usually performed via an oral route. If an anal route is selected in cases involving stenosis of the small intestine, endoscopic balloon dilation will be necessary to reach the target. In conclusion, DBE is very useful for extracting foreign bodies from the small intestine, and the careful selection of the DBE route and the removal device are important for successfully retrieving foreign bodies.

Classification of intestinal lymphangiectasia with protein-losing enteropathy: white villi type and non-white villi type.

BACKGROUND/AIMS: We classified intestinal lymphangiectasia (IL) into two categories, the white and non-white villi types, and evaluated their clinical characteristics and therapeutic responses. METHODS: Of the 988 patients who underwent double-balloon enteroscopy, 14 consecutive patients (7 men and 7 women, median age at onset 34 years) were enrolled with immunohistochemically confirmed IL with protein-losing enteropathy. RESULTS: Enteroscopically the white villi type (n = 8) showed white plaques and white-tipped villi were scattered in the small bowel, while non-white villi type (n = 6) showed that apparently normal but under more detailed observation, low and round villi with a normal color were diffused. The serum albumin levels and fecal α1-antitrypsin clearance before treatment were significantly worse in the non-white villi type (p = 0.017 and 0.039, respectively), whereas the serum immunoglobulin A and M levels were significantly lower in the white villi type (p = 0.010 and 0.046, respectively). At gastroscopy, a non-cirrhotic snakeskin appearance was significantly observed in the non-white villi type (p = 0.015). The corticosteroid response was better in the non-white villi type (p = 0.015). CONCLUSION: Two distinct subgroups were found in IL. This classification was useful in pathophysiological clustering and in predicting the therapeutic response.

Cowden syndrome complicated by a gastrointestinal stromal tumor.

To our knowledge, this is the first report of Cowden syndrome complicated by a gastrointestinal stromal tumor (GIST) of the small bowel. A 42-year-old female patient was found to have an abdominal mass that was diagnosed as the cause of anemia and was surgically extracted. The surgical specimen was found to be a GIST. During the same period, the patient underwent an endoscopic examination of the entire gastrointestinal tract. She was also diagnosed as having Cowden syndrome based on gastrointestinal polyps and skin, thyroid and breast lesions. Cowden syndrome is associated with germline mutations in the tumorsuppressor gene PTEN. PTEN expression may be essential to tumor growth and is a predictive biomarker of the prognosis of both diseases. The present report of such a case is expected to further the analysis of Cowden syndrome.