Celiac disease presenting with microcephaly.

A 15-month-old girl with celiac disease presented with microcephaly and developmental delay. Head growth resumed during a gluten-free diet. Subsequent gluten ingestion resulted in no head growth, areflexia, and increased celiac antibodies. All resolved with gluten elimination. Poor head growth may precede other clinical manifestations of celiac disease.

Laparoscopy in the management of children with chronic recurrent abdominal pain.

BACKGROUND AND OBJECTIVES: The purpose of the present study was to evaluate the results of diagnostic laparoscopy in children with chronic recurrent abdominal pain. PATIENTS AND METHODS: Thirteen children with chronic recurrent abdominal pain were subjected to diagnostic laparoscopy. Ages varied from 10 to 17 years. There were six males and seven females. Abdominal pain was present from 3 weeks to 12 months (mean, 2 months). Extensive laboratory and imaging studies did not contribute to the diagnosis. In all patients, the pain was disabling and severe enough to warrant repeated visits to the pediatrician, emergency room visits, or hospital admissions, as well as absence from school. RESULTS: All children recovered uneventfully. Laparoscopic findings that identified the cause of abdominal pain were obtained in 12 of 13 patients. Laparoscopic appendectomy was done in all patients. There were no operative complications. One child presented three months later with incomplete small bowel obstruction, which resolved with conservative management. There were no other postoperative complications. Follow-up varied from six months to three years. Abdominal pain resolved in ten patients. One patient presented eight months later with biliary dyskinesia. She improved following laparoscopic cholecystectomy and later on sphincterotomy, but her pain has not yet completely resolved. One patient presented six months later with abdominal pain secondary to intestinal adhesions. Her pain completely resolved after laparoscopic lysis of adhesions. A third patient who developed lower abdominal pain six months after laparoscopy improved with conservative management and antibiotics for pelvic inflammatory disease. CONCLUSIONS: Diagnostic laparoscopy is a valuable procedure in the management of children with chronic recurrent abdominal pain. In the present study, laparoscopic examination revealed the cause of abdominal pain in most patients, and this pain resolved in most cases. Based on our experience, we recommend diagnostic laparoscopy early in the course of debilitating chronic recurrent abdominal pain in children. Appendectomy should be done when no other significant cause of abdominal pain has been identified, even if the appendix looks normal.

Nonspecific esophageal motility disorders in children without gastroesophageal reflux.

BACKGROUND: Nonspecific esophageal motility disorders (NEMDs) have been identified in up to 50% of adults with noncardiac chest pain or dysphagia. This study sought to determine the incidence of NEMDs in children with upper gastrointestinal tract symptoms and to evaluate the clinical course of pediatric patients with these manometric abnormalities. METHODS: The study involved 154 children aged 4 to 18 years (mean age, 11.6+/-2.6 years [SE]) who had upper gastrointestinal, swallowing-related symptoms. The children were evaluated by 24-hour intraesophageal pH monitoring, esophageal manometry, and esophagogastroduodenoscopy. RESULTS: Gastroesophageal reflux (GER) was diagnosed by pH study in 109 (71%) of 154 patients, and examination of biopsy specimens demonstrated esophagitis in 70 children with GER. Results of esophageal manometry were abnormal in 30 (67%) of 45 children without GER. A variety of motility disorders were diagnosed in 17 of the patients without GER, whereas NEMDs were diagnosed in the remaining 13 children (mean age, 10.6+/-2.7 years; 10 boys, 3 girls). Patients with GER showed normal esophageal wave propagation; however, mean lower esophageal sphincter pressure was significantly lower in patients with GER than in children with NEMDs. The children with NEMDs exhibited a diverse array of symptoms, including esophageal food impaction in 4 of the 13 patients. During a 36.2+/-4.3-month follow-up period, no correlation was found between therapeutic intervention and clinical course in the 13 patients with NEMDs. Symptomatic improvement occurred in 6 of 13 patients, including 3 children for whom no pharmacologic therapy was prescribed. CONCLUSIONS: These data indicate that NEMDs represent a common group of esophageal manometric abnormalities in children with upper gastrointestinal tract symptoms and without GER. Food impaction appears to be a relatively frequent complication, and NEMDs should be considered in children who have this finding.

Esophageal manometry in children with esophagitis.

Esophageal motility was studied in 31 patients with mild to moderate esophagitis and in 48 patients without esophagitis to determine the effect of esophageal inflammation on lower esophageal sphincter pressure, and the amplitude, duration, and velocity of esophageal contractions. There were no significant differences in any of these parameters associated with esophageal inflammation. We conclude that mild to moderate esophagitis does not cause serious esophageal dysfunction in children.

Esophagitis and Helicobacter pylori in children: incidence and therapeutic implications.

The relationship between gastric Helicobacter pylori colonization and esophagitis was determined in 457 children undergoing endoscopic evaluation of abdominal pain and/or vomiting. In all patients, biopsies of the esophagus were examined histologically, and two antral biopsies were analyzed for the presence of H. pylori, using standard microbiological and histochemical techniques. The incidence of biopsy-proven esophagitis was similar in H. pylori-positive (15/56 patients) and -negative (94/401; p = NS) groups. Clinical improvement, after 2 months of antisecretory therapy with H2-receptor antagonists, was independent of H. pylori status (11/15 vs. 68/94 responders; p = NS). All 26 H. pylori-negative nonresponders became asymptomatic with a second course of H2-blockers. The 4/15 H. pylori-positive patients (all of whom had associated gastritis/duodenitis) who failed antisecretory therapy responded clinically to treatment with amoxicillin plus bismuth subsalicylate. These data indicate that primary treatment of biopsy-confirmed esophagitis in children should include anti-secretory agents, regardless of H. pylori status. A small percentage of H. pylori-positive patients with esophagitis and concomitant gastroduodenal inflammation may require additional antibacterial therapy, suggesting that presence of the organism should be assessed in all pediatric patients undergoing upper endoscopic evaluation.

Gardner syndrome. Early presentation with a desmoid tumor. Discovery of multiple colonic polyps.

A 14-year-old patient who was eventually found to have Gardner syndrome initially presented at the age of 3 years with a desmoid tumor involving the scalp. A careful review of the family history revealed a high incidence of colonic cancer, which prompted endoscopic evaluation of the patient. The discovery of adenomatous polyps in the colon confirmed the diagnosis of Gardner syndrome. In patients with hard or soft tissue tumors, the possibility of Gardner syndrome should be kept in mind, and a thorough family history taken. Early diagnosis may prevent malignant transformation of colonic polyps.

Patterns of gastroesophageal reflux (GER) in patients with apparent life-threatening events.

The incidence and temporal patterns of gastroesophageal reflux (GER) in infants presenting with an apparent life-threatening event (ALTE) was compared with GER characteristics of infants evaluated for persistent emesis, utilizing continuous 24 h intraesophageal pH monitoring. These data indicate that the incidence of significant GER was similar in both groups, despite the absence of a clinical vomiting history in 46% of ALTE patients. Furthermore, infants with ALTE demonstrate a significantly higher incidence of sleep reflux when compared with control infants presenting with vomiting alone (27 vs. 0%, p less than 0.001). Awake GER beyond the first two postprandial hours was not observed in either study group. Monitoring results, therefore, indicate that significant GER is common in infants with ALTE; and these infants manifest an apparently unique pattern of GER distinct from that observed in age-matched controls with GER alone. Possible relationships between GER in ALTE patients and the development/onset of apneic episodes are discussed.

Gastroesophageal reflux secondary to gastrostomy tube placement.

We evaluated five children with severe psychomotor retardation who developed frequent vomiting and poor weight gain after surgical placement of a feeding gastrostomy tube. Prolonged pH probe testing before surgery did not reveal notable gastroesophageal reflux (GER). Treatment with 12-hour gastrostomy tube feeding resulted in a marked reduction in vomiting; after one year of continuous feeding, all patients had achieved significant weight gain (mean, 44.0%). Esophageal manometrics and 24-hour pH probe testing before and at the end of the 12-month continuous-feeding period demonstrated low pressures of the lower esophageal sphincter and significant GER in the five children studied. These results indicate that children may develop symptomatic GER after gastrostomy tube placement. In such patients continuous gastrostomy tube feeding may result in a cessation of vomiting and achievement of significant weight gain. Definitive antireflux surgery can then be performed with the patient in an improved nutritional state.