Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.
Child, Preschool ; Craniofacial Abnormalities ; diagnosis ; etiology ; therapy ; Genital Diseases, Male ; diagnosis ; etiology ; therapy ; Humans ; Lymphangiectasis, Intestinal ; diagnosis ; etiology ; therapy ; Lymphedema ; diagnosis ; etiology ; therapy ; Male ; Syndrome

Adult ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Ileal Diseases ; diagnosis ; therapy ; Lymphangiectasis, Intestinal ; diagnosis ; therapy ; Male ; Parenteral Nutrition

Behcet's disease is a multi-systemic vasculitis and characterized by systemic organ involvement. Although the gastrointestinal and systemic features of Behcet's disease and inflammatory bowel disease overlap to a considerable extent, they are generally viewed as two distinct diseases. A 39-yr-old female was diagnosed as having Behcet's disease. She was admitted to our hospital because of oral and genital ulcer, lower abdominal pain, and frequent diarrhea. Colonosopy showed diffuse involvement of multiple longitudinal ulcers with inflammatory pseudopolyps with a cobblestone appearance and ano-rectal fistula was suspected. These findings are extremely rare in Behcet's disease. However, there were no granulomas, the hallmark of Crohn's colitis. Microscopically, perivasculitis and multiple lymph follicles compatible with Behcet's disease were seen. Although being rarely encountered, multiple longitudinal ulcers, cobblestone appearance, and ano-rectal fistula can develop in Behcet's disease, as in Crohn's colitis. Therefore, Behcet's disease and Crohn's disease may be closely related and part of a spectrum of disease.
Adult ; Behcet Syndrome/diagnosis/*therapy ; Colitis ; Colonoscopy ; Crohn Disease/diagnosis/*therapy ; Female ; Humans ; Inflammation ; Inflammatory Bowel Diseases/pathology ; Intestinal Diseases/diagnosis/*therapy ; Perineum/pathology ; Ulcer ; Vulva/pathology

Self-expandable stents are widely available for the treatment of perforation of the gastrointestinal tract. Because of the risk of migration, there has been no report of the use of self-expandable stents for the treatment of perforation of the colon or rectum. This is a report of successful treatment of iatrogenic colonic perforation during balloon dilatation of anastomotic stricture with a fully covered stent. Fully covered, self-expandable metallic stents can be considered useful tools for management of this condition.
Aged, 80 and over ; Colon/*injuries/pathology/radiography ; Colonic Diseases/diagnosis/*therapy ; Constriction, Pathologic ; Dilatation/*adverse effects ; Humans ; *Iatrogenic Disease ; Intestinal Obstruction/diagnosis/*therapy ; Intestinal Perforation/diagnosis/etiology/*therapy ; Male ; *Metals ; Prosthesis Design ; Sigmoidoscopy ; *Stents ; Treatment Outcome ; Wound Healing

OBJECTIVE: To observe the correlation between referred pain distribution and acupoint sensitization in patients with intestinal diseases. METHODS: In clinical research, 443 patients from 8 hospitals were recruited, including the outpatients and inpatients of Crohn's disease (=143), ulcerative colitis (=108), chronic appendicitis (=87) and other intestinal diseases (=105). The site with tenderness on the body surface and the morphological changes of local skin were observed and recorded in the patients. Using a sensory tenderness instrument, the pain threshold at the sensitization point was measured in 60 patients with ulcerative colitis. In animal experiment, SD rats were used and divided into a enteritis group (=8), in which the enteritis model were established, and a control group (=3), in which no any intervention was given. After the injection of Evans blue (EB) at caudal vein, the blue exudation points on the body surface were observed and the distribution rule was analyzed statistically. RESULTS: The referred pain on the body surface in the patients with intestinal diseases was mainly located in the lower abdomen (93.9%, 416/443), the lumbar region (70.9%, 314/443) and the lower legs (33.0%, 146/443). The diameter of tenderness region was 1.5 to 2.5 cm. Compared with the region without sensitization, the pain threshold of the sensitization point in the patients with ulcerative colitis was reduced significantly (<0.001). The referred pain on the body surface in the patients with appendicitis was located in the right lower abdomen (97.7%, 85/87), the waist and back (54.0%, 47/87) and the right lower limbs on the medial side (71.3%, 62/87). The tenderness region was 1 to 2 cm in diameter and was irregular in form. After modeling of enteritis in the rats, the EB exudation points were visible from T to L. CONCLUSION Intestinal diseases induce referred pain on the body surface where is the same as or adjacent to the location of the spinal segment corresponding to the affected intestinal section. These sensitization regions are related to the locations of acupoints.
Acupuncture Points ; Animals ; Colitis, Ulcerative ; Humans ; Intestinal Diseases ; Pain Threshold ; Pain, Referred ; diagnosis ; therapy ; Rats ; Rats, Sprague-Dawley ; Sensation

OBJECTIVETo summarize the experience with duodenal perforations to determine a systematic management approach.

METHODSA total of 11 250 patients who received endoscopic retrograde cholangiopancreatography(ERCP) in The First People's Hospital of Hangzhou from January 2005 to December 2011 and 15(0.13%) patients developed duodenal perforation. The clinical data of these 15 cases were analyzed.

RESULTSThere were 6 males and 9 females. The age ranged from 45 to 87 years. Seven patients developed perforation after sphincterotomy of the duodenal papilla. Five patients perforated due to the endoscope, and 3 due to guide wire and net basket. All the patients presented varying degree of abdominal pain and distention. CT scan of the upper abdomen showed peripancreatic and retroperitoneal air or fluid. Diagnosis was confirmed in 7 patients using abdominal X-ray. Eight patients developed postoperative abdominal pain and distention, subcutaneous emphysema, and fever 3 hours to 5 days after surgery, and diagnosis was confirmed using plain abdominal X-ray or upper abdominal CT scan. Nine patients were managed conservatively, 4 of whom were diagnosed within 3 hours after perforation and were managed by endoscopic metal clip and nasobiliary drainage and no abdominal abscesses developed. The length of hospital stay ranged from 10 to 15 days. Five patients were diagnosed 10 hour to 5 days after perforation, of whom 2 had intestinal fistula, 4 had abscess, and one died, the length of hospital stay ranged from 15 to 105 days. Six patients were managed surgically, 4 received surgery within 4 to 8 hours after perforation and no abscess developed, and the length of hospital stay ranged from 18 to 21 days. The other 2 patients were operated at 24 hours and 30 hours after perforation respectively, one of whom had recurrent intra-abdominal bleeding after surgery and one died from intra-abdominal abscess and multiple organ failure.

CONCLUSIONSFor duodenal perforations related to ERCP, early diagnosis can be made by prompt intraoperative identification and postoperative CT scan. Endoscopic metal clip and nasobiliary drainage should be considered aside from surgical intervention.

Aged ; Aged, 80 and over ; Cholangiopancreatography, Endoscopic Retrograde ; adverse effects ; Duodenal Diseases ; diagnosis ; etiology ; therapy ; Female ; Humans ; Intestinal Perforation ; diagnosis ; etiology ; therapy ; Male ; Middle Aged ; Retrospective Studies

Endoscopic retrograde biliary drainage (ERBD) is useful for the palliative decompression of biliary obstruction. However, the complications of ERBD include cholangitis, hemorrhage, acute pancreatitis, obstruction of the stent, and duodenal perforation. Pressure necrosis on the duodenal mucosa by the stent may contribute to perforation. Although duodenal perforation following ERBD is very rare compared to other complications, it can result in a fatal outcome. Recent reports describe nonsurgical treatment for small gastrointestinal perforation with localized peritonitis and suggest that endoclipping may be appropriate in the management of a well selected group of patients with iatrogenic perforation. We describe a case of duodenal perforation secondary to ERBD that was successfully treated with approximating using endoclip and detachable snare.
Bile Ducts, Extrahepatic ; Biliary Tract Diseases/complications/surgery ; Cholangiopancreatography, Endoscopic Retrograde ; Drainage ; Duodenal Diseases/*diagnosis/etiology/therapy ; Female ; Gallbladder Neoplasms/diagnosis ; Humans ; Intestinal Perforation/*diagnosis/etiology/therapy ; Middle Aged ; Plastics ; Stents/*adverse effects ; Tomography, X-Ray Computed

Non-steroidal anti-inflammatory drugs (NSAIDs) are used for the management of various conditions, such as pain, fever, inflammation, cancer, or cardiovascular diseases. These drugs may induce injury throughout the gastrointestinal tract. NSAIDs are associated with diverse upper gastrointestinal adverse effects, including dyspepsia, erosions, peptic ulcer diseases and complications such as bleeding perforation. Established risk factors for these adverse effects include age, prior ulcer, types, doses and duration of NSAIDs, concurrent other NSAIDs administration, and the concomitant uses of corticosteroids or anticoagulants. Misoprostol, proton pump inhibitors, and cyclooxygenase-2 selective inhibitors have been used to reduce the risk of NSAID-associated upper gastrointestinal events. NSAID-induced enteropathy is more common than complications of the stomach and duodenum and is usually manifested by occult blood loss or hypoalbuminemia. Furthermore, NSAIDs induce small intestinal injuries causing gut barrier damage, and bacterial translocation that have been proposed to be associated with the burden of illness in decompensated chronic heart failure. However, the risk factors for NSAID-induced enteropathy and bacterial translocation, as well as its preventive measures, are not well documented.
Anti-Inflammatory Agents, Non-Steroidal/*adverse effects/therapeutic use ; Capsule Endoscopy ; Gastrointestinal Diseases/*chemically induced/diagnosis/therapy ; Humans ; Intestinal Diseases/chemically induced/diagnosis/therapy ; Risk Factors ; Upper Gastrointestinal Tract/pathology

BACKGROUNDX-ray of the digestive tract and radionuclide examination could not accurately detect diseases of the small intestine. Double-balloon enteroscopy has been used to increase the detection rate of these diseases in addition to endoscopic biopsy and therapy. The purpose of this study was to determine the value of double-balloon enteroscopy in the diagnosis and treatment of diseases of the small intestine.

METHODSA total of 258 double-balloon enteroscopies via the mouth and/or anus were performed in 208 patients. If no lesion was detected on one side (mouth or anus), examination on the other side (anus or mouth) was made. If active small intestinal bleeding was detected, endoscopic hemostasis was done to treat the bleeding.

RESULTSIn the 208 patients, 50 were subjected to double-balloon enteroscopy via both mouth and anus. Lesions were detected in 151 patients, giving a rate of 72.6% (151/208). The detection rates for obscure digestive tract bleeding, diarrhea, abdominal pain and weight loss were 90.2% (92/102), 64.9% (24/37), 48.5% (16/33) and 43.3% (13/30), respectively. Lesions of the 151 patients were confirmed by endoscopic biopsy, surgery, clinical studies, and follow-up. In the 102 patients with bleeding of the digestive tract, active bleeding was detected in 27 patients. Endoscopic hemostasis was successful in 25 of them (92.6%, 25/27). No serious complications occurred in all the patients, the average time for the procedure was 100 minutes.

CONCLUSIONSDouble-balloon enteroscopy is safe, effective in the diagnosis of diseases of the small intestine in addition to endoscopic therapy.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Endoscopy, Gastrointestinal ; adverse effects ; methods ; Female ; Hemostasis ; Humans ; Intestinal Diseases ; diagnosis ; therapy ; Male ; Middle Aged

Behcet's disease (BD) is a multisystem inflammatory disorder that presents as recurrent oral and genital ulcers in conjunction with other dermatological and ocular manifestations. The prevalence of BD is higher in Middle and East Asia than in Western countries. Intestinal BD is a specific subtype of BD, characterized by intestinal ulcers and associated gastrointestinal symptoms. Similar to inflammatory bowel disease, intestinal BD exhibits a fluctuating disease course with repeated episodes of relapse and remission that necessitate adequate maintenance therapy after achievement of clinical remission. Medical treatment of intestinal BD is largely empirical since well-controlled studies have been difficult to perform due to the heterogeneity and rarity of the disease. To date, 5-aminosalicylic acid, systemic corticosteroids, and immunosuppressants have been used anecdotally to treat intestinal BD. The clinical course of intestinal BD shows considerable variability, and the exact point at which more potent agents such as immunosuppressants should be used has not yet been elucidated. Given the difficulty in predicting which patients will experience complicated disease courses and the fact that these drugs are related with certain risk resulting from immunosuppression, proper identification of prognostic factors in intestinal BD may allow physicians to implement tailored medical therapy and individualized patient monitoring based on risk stratification. In this review, the impact of baseline characteristics on the long-term course of intestinal BD, prognostic factors during various medical therapies, and outcome predictors related to surgery will be discussed.
Adrenal Cortex Hormones/adverse effects/therapeutic use ; Adult ; Age Factors ; Behcet Syndrome/*diagnosis/pathology/therapy ; Female ; Humans ; Immunosuppressive Agents/adverse effects/therapeutic use ; Immunotherapy ; Intestinal Diseases/*diagnosis/pathology/therapy ; Male ; Prognosis ; Sex Factors