Multiple endocrine neoplasia type 2B diagnosed after small intestinal volvulus with progressive megacolon in an adolescent.

Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B. The patient complained of constipation since he was 2 years old and slowly progressive abdominal distension at school age. At 14 years of age, he presented with remarkable megacolon mimicking Hirschsprung's disease and complicated with small intestinal volvulus. The volvulus was successfully repaired, and the particularly dilated transverse colon was resected following a rectal biopsy. Histopathological evaluation of the resected transverse colon revealed to be compatible with ganglioneuromatosis. After emergency surgery, the patient was diagnosed with multiple endocrine neoplasia type 2B with medullary thyroid carcinoma, and a de novo variant of RET was confirmed. Gastroenterologists should consider it when treating patients with constipation, especially those with megacolon. Therefore, timely diagnosis may lead to appropriate treatment of medullary thyroid carcinoma and improve mortality.

Extremely young case of small bowel intussusception due to Peutz-Jeghers syndrome with nonsense mutation of STK11.

Intussusception is a frequent and severe complication of Peutz-Jeghers syndrome (PJS). We herein present the case of a 3-year-old girl who experienced jejuno-jejunal intussusception due to PJS polyps. Despite no apparent family history of PJS, she had exhibited mucocutaneous pigmentation since infancy and recurrent abdominal pain and vomiting from 2 years of age. Segmental resection of the jejunum during emergency laparotomy for the intussusception revealed multiple hamartomatous polyps. Genetic analysis uncovered a germline nonsense mutation of c.247A>T in exon 1 of serine/threonine kinase 11 (STK11). Biannual follow-up surveillance for polyps by esophagogastroduodenoscopy, colonoscopy, and small bowel capsule endoscopy is ongoing. Reports describing the clinical and genetic features of extremely young PJS with intussusceptions are rare, although a literature review of STK11 germline mutations revealed several other pediatric cases of complicating intussusception at ≤ 8 years old. Considering the recent advances in surveillance and treatment options for the small bowel, earlier management of symptomatic children with PJS may be warranted to avoid surgical emergency.

Endoscopic identification of Helicobacter pylori gastritis in children.

AIM: The role of endoscopic findings in deciding whether to biopsy the gastric mucosa of children remains unclear. The present study attempted, for the first time, to identify the value of endoscopic features for diagnosis of Helicobacter pylori (Hp) infection in children. METHODS: Hp status of consecutive children receiving esophagogastroduodenoscopy (EGD) was established by combinations of histology, (13)C-urea breath test, and serum Hp immunoglobulin (Ig)G antibody. After routine EGD using a conventional endoscope, the presence of RAC (regular arrangement of collecting venules) was scored by close observation, which was carried out at two sites of lower corpus lesser curvature and upper corpus greater curvature. RAC-positive was defined as the presence of minute red points in a regular pattern. Antral nodularity was also scored as present/absent. RESULTS: Eighty-seven consecutive children (38 boys, median age 13 years, range 9-15 years) were evaluated; 25 (29%) were Hp positive. Antral nodularity was seen in 21 (84%) all of whom were Hp positive. The RAC-negative pattern based on examination of the upper and lower corpus yielded a sensitivity, specificity, positive predictive value and negative predictive value for the presence of Hp infection of 100%, 90%, 81%, and 100%. Magnifying endoscopy confirmed that the RAC pattern corresponded to collecting venules in the gastric corpus. CONCLUSIONS: The absence of RAC pattern suggests that gastric mucosa biopsies should be taken despite otherwise normal-appearing gastric mucosa for the diagnosis of Hp infection in children.

[Diagnosis of H. pylori infection in children].

There are two types of diagnostic tests used to detect H. pylori infection: non-invasive and invasive in children. Non-invasive tests include the urea breath test, stool antigen tests, and blood or urine serologic assays which detect the presence or absence of infection. The urea breath test and stool antigen test have adequate sensitivity and specificity in children and recommended to detect active H. pylori infection before and after eradication therapy. Invasive tests include the performance of upper gastrointestinal endoscopy with gastric biopsy. The histopathology can determine both presence or absence of infection and the extent and severity of mucosal injury (i.e., disease). Culture of gastric tissue has 100% specificity and the antimicrobial susceptibility test is available. Non-invasive tests are developed for use in children, the use of upper gastrointestinal endoscopy with gastric biopsy remains the diagnostic strategy of choice in symptomatic children.

Prospective comparison between sedated high-definition oral and unsedated ultrathin transnasal esophagogastroduodenoscopy in the same subjects: pilot study.

BACKGROUND: Recently, quality as well as acceptability has been a concern regarding endoscopy. The aim of the present study was to compare the acceptability and quality of sedated high-definition esophagogastroduodenoscopy (sHD-EGD) using a newly developed high-definition videoscope with those of unsedated ultrathin esophagogastroduodenoscopy (uUT-EGD) using a 5.2 mm videoscope. METHODS: Twenty-two volunteers underwent both peroral sHD-EGD and transnasal uUT-EGD on the same day. Sedation consisted of 40 mg of propofol i.v. Both endoscopist and subject satisfaction levels were assessed using a 10 cm visual analogue scale. RESULTS: All 22 subjects completed the sHD-EGD and 21 subjects completed the uUT-EGD. The endoscopist and subject satisfaction levels of sHD-EGD were significantly better than those of uUT-EGD (overall endoscopist satisfaction: 9 vs 4, P < 0.0001; overall subject satisfaction: 9 vs 3, P < 0.0001). The optical quality of the endoscopic images of sHD-EGD was significantly higher than that of uUT-EGD except in the duodenal bulb (overall quality: 8 vs 7, P < 0.0001). The interobserver agreement for EGD findings in sHD-EGD was better than with uUT-EGD, although the EGD findings in both sHD-EGD and uUT-EGD were similar. After undergoing both procedures, 91% were willing to have sHD-EGD again compared to 9% with uUT-EGD. CONCLUSIONS: The endoscopist and subject satisfaction levels and image quality of sHD-EGD were better than those of uUT-EGD. The routine use of high-definition videoscopes would be expected to provide better acceptability than that obtained with unsedated endoscopy.

Low-dose propofol sedation for diagnostic esophagogastroduodenoscopy: results in 10,662 adults.

OBJECTIVE: The use of propofol sedation during endoscopic procedures has increased in recent years. The aim of this study was to evaluate the safety and effectiveness of nurse-administered low-dose propofol sedation for diagnostic esophagogastroduodenoscopy (EGD). METHODS: We prospectively assessed the outcome and complications of low-dose bolus propofol for endoscopic sedation for diagnostic EGD. Propofol was administered by bolus injection, with a standard protocol of 40 mg for patients <70 years old, 30 mg for patients 70-89 years old, and 20 mg for patients 90 years or older. When required for adequate sedation, additional doses were given, to a maximum of 120 mg. The primary outcome measure was respiratory depression, defined as oxygen desaturation (SpO(2) <90%) that continued for more than 20 s. Secondary measures included successful procedures, full recovery within 60 min of the procedure, and complications. RESULTS: All procedures were successful; 8,431 of 10,662 patients (79.1%) completed diagnostic EGD with a single bolus of propofol. Only 0.26% (28 patients) required transient supplemental oxygen supply; neither mask ventilation nor endotracheal intubation was required. Full recovery occurred in 99.9% of patients 60 min after the procedure. Men and younger patients required significantly higher doses of propofol than did the women and older patients (men vs. women, 46.5+/-19 vs. 42.7+/-15 mg, P=0.0008; age 40-49 vs. age 50-59, 51.5+/-16 vs. 46.3+/-13 mg, P<0.0001). Of the 400 patients, 368 (92%) wanted to drive home or to their offices, and all did so without incident. A total of 99% were willing to repeat the same procedure again. CONCLUSIONS: Low-dose nurse-administered propofol sedation is safe and practical for diagnostic EGD.