Eosinophilic esophagitis in children with esophageal atresia.

Eosinophilic esophagitis (EoE) has only rarely been reported in esophageal atresia (EA) patients. A retrospective case analysis of all EA patients born at our center between January 1999 and April 2012 was performed. A total of 113 of patients were identified; 10 patients were excluded as a result of inadequate data. Eighteen patients (17%) were diagnosed with EoE. The average number of eosinophilis was 30/high-power field (HPF) (19/HPF-80/HPF). The median age for diagnosis of EoE was 1 year and 6 months (8 months-8 years and 7 months). Children with EoE had a significantly greater incidence of reflux symptoms, dysphagia, tracheomalacia, and 'hypoxic spells' (P < 0.05). EoE patients also underwent significantly more surgery including fundoplication and aortopexy when compared with those without EoE (P < 0.0001). Although the incidence of gastrostomy was greater in the EoE group (33% vs. 13%), this was not statistically significant. Half of the EoE patients had a coexisting atopic condition at time of diagnosis. The commonest condition was asthma 7/18 (38%) followed by specific food allergy 6/18 (33%). EoE was treated in 11 patients with either swallowed fluticasone or budesonide slurry. All improved clinically. Histologically, five had complete resolution and six had partial improvement. Six children with EoE were treated with acid suppression alone. All improved clinically, and 5/6 had subsequent histological resolution. One child who received acid suppression and an exclusion diet also improved. Seven patients (38%) had an esophageal stricture at time of EoE diagnosis. Five were dilated at time of the initial endoscopy, prior to the diagnosis of EoE being available. Two patients had resolution of their strictures on medical treatment of their EoE alone and did not require further dilatation. EoE was seen in 17% of children with EA in this study. EoE should be considered in EA patients with persistent symptoms on standard reflux treatment, increasing dysphagia, and recurrent strictures.

Thiopurine metabolite monitoring in paediatric inflammatory bowel disease.

BACKGROUND: Measurement of thiopurine metabolite levels may be useful as a clinical tool to optimize thiopurine treatment of paediatric inflammatory bowel disease (IBD). AIM: The authors evaluated correlations between 6-thioguanine nucleotide (6-TGN) and therapeutic response, metabolite levels and drug toxicity. METHODS: Fifty-six paediatric IBD patients treated with thiopurines had 326 metabolite level measurements and were retrospectively reviewed. Clinical status and laboratory parameters were compared with metabolite levels. RESULTS: There was significant correlation between 6-TGN levels and therapeutic response, with higher median 6-TGN levels among patients with therapeutic response than those with non-therapeutic response (194 vs. 146 pmol/8 x 10(8) RBC; P = 0.0004). Patients with 6-TGN levels >235 pmol/8 x 10(8) RBC were more likely to achieve therapeutic response than those below the cut-off (odds ratio, 2.5; 95% CI, 1.5-4.1). Patients who developed leukopenia tended to have higher median 6-TGN levels than those without leukopenia (261 vs. 160 pmol/8 x 10(8) RBC) but the difference was not statistically significant. There was no correlation between 6-methylmercaptopurine levels and hepatotoxicity. Two patients developed acute pancreatitis. Metabolite level measurements were helpful in identifying non-compliance in nine patients. CONCLUSIONS: Monitoring of thiopurine metabolite levels is useful to guide and optimize dosing, as an adjunct to clinical judgement, blood count and liver biochemistry measurements to minimize the risk of drug toxicity and to confirm non-compliance.

Childhood inflammatory bowel disease: parental concerns and expectations.

AIM: To document the concerns and expectations of parents of children with inflammatory bowel disease (IBD) within the context of a multidisciplinary IBD clinic, and to highlight the importance of a holistic approach to the care of these children. METHODS: The parents of 60 children with IBD were surveyed by mailed questionnaire. Parents were asked to provide details of their concerns regarding their child's condition and to express their expectations of medical care. In addition, enquiry was made in respect to the respondents' learning about IBD. RESULTS: Forty-six questionnaires (77%) returned. Fifty-two percent of the patients were male. Patients were aged a mean of 10.9 (+/-4.1) years and diagnosed at an average age of 2.1 (+/-1.8) years previously. The most common concerns expressed by the parents related to the side- effects of medications and the future prospects for their child. Overall, parents were satisfied with aspects of care within the IBD clinic but many suggested additional personnel such as counselors or educators should be available. Parents also reported the need for continuing education and easy access to up-to-date information. CONCLUSION: Parents of children and adolescents with IBD have many common concerns regarding their child's condition. On-going attention to holistic care, including psychosocial and educational elements for patients and families, is appropriate in the context of the chronic and unpredictable nature of IBD.

Prophylactic colectomy in Ehlers-Danlos syndrome with colonic ectasia.

An adolescent boy with clinical features of Ehlers-Danlos syndrome developed ectasia of the colon leading to intractable constipation and clinically imminent colonic perforation. Total colectomy with ileorectal anastomosis in two stages was performed eliminating not only his intractable constipation but also the risk of potentially lethal perforation. This case illustrates an approach that may reduce the high mortality rate reported in patients with Ehlers-Danlos syndrome and colonic perforation.

Is orofacial granulomatosis in children a feature of Crohn's disease?

UNLABELLED: Orofacial granulomatosis is a term generally used to describe lip swelling secondary to an underlying granulomatous inflammatory process. Granulomatous cheilitis is the histopathological description of such inflammation occurring in the lips and surrounding tissues. Melkersson-Rosenthal syndrome (a triad of orofacial swelling, facial paralysis and a fissured tongue) is one manifestation of orofacial granulomatosis, which more commonly presents as granulomatous cheilitis alone. Oral Crohn's disease also belongs to the entity of orofacial granulomatosis. Most reported cases of orofacial granulomatosis have been in adults and some in adolescents. We present six children presenting with orofacial granulomatosis at an early age (range 5-8 y) whose course points towards the development of Crohn's disease. CONCLUSION: Orofacial granulomatosis in the paediatric population may be an initial manifestation of Crohn's disease and so careful surveillance is recommended.

Management guidelines for Helicobacter pylori infection: utilization by paediatric gastroenterologists in Australasia.

OBJECTIVE: Although there are published guidelines representing the consensus of several large groups, it is unclear whether these are used by practitioners in the management of Helicobacter pylori infection in children and if the guidelines are relevant to particular regions of the world. The aim of this study was to answer these questions in regard to the Australasian region. METHODS: An email-based questionnaire was circulated to Australasian paediatric gastroenterologists to ascertain aspects of practice related to H. pylori infection in children and to review practitioner awareness and use of the guidelines. RESULTS: Twenty-five (78%) of 32 questionnaires were completed. Current practice reported by the respondents followed the principles of the published guidelines. However, only 15 gastroenterologists were aware of the guidelines: a number of these practitioners were uncomfortable adapting the published guidelines to their local situation. CONCLUSIONS: Although widely distributed in the paediatric gastroenterology literature, guidelines for management of H. pylori infection may not be utilized fully by individual practitioners. As these guidelines are updated, based upon current developments in the understanding of H. pylori disease, attempts should be made to ensure that such documents are widely distributed to practitioners and that they reflect regional variations in disease patterns.

Use of complementary and alternative medicines by children and adolescents with inflammatory bowel disease.

OBJECTIVES: The use of complementary and alternative medicines (CAM) appears increasingly prevalent in children and adolescents. Individuals with chronic illness may have patterns of greater usage. This questionnaire-based study aimed to ascertain the frequency of use by a group of children with proven inflammatory bowel disease (IBD) and to consider the reasons for their use. METHODS: A questionnaire was sent by mail to the parents of patients currently attending a paediatric IBD clinic. Parents were asked to describe their child's usage of alternative and probiotic therapies and to comment on a number of aspects of such therapies. RESULTS: Forty-six (77%) of 60 mailed questionnaires were returned. The mean age of the children was 10.9 (+/- 4.1) years and they were taking an average of 1.7 (+/- 0.8) prescribed medications. Thirty-three (72%) of the children were said by their parents to be having CAM, with four having five or more such therapies (average 2.4 +/- 1.3 agents per child). The most commonly used agents were probiotics (78%) and fish oils (56%). A minority (12%) of respondents reported that their child's CAM was very effective, although many (50%) noted partial benefits. The 13 children who had never used any CAM therapies ('non-users') did not differ from the 'users' in terms of gender, age, disease or duration of disease. As expected, non-users expressed greater concerns about use of CAM and described different attitudes towards such therapies. CONCLUSION: Complementary and alternative medicines, especially probiotic therapies, frequently are administered to children and adolescents with inflammatory bowel disease. Often this appears to be due to parental frustration with managing their child's chronic illness. Practitioners caring for children and adolescents with IBD need to be aware that their patients may be using alternative therapies and adopt an open attitude in this situation.

Congenital short gut, malrotation, and dysmotility of the small bowel.

A familial syndrome of congenital short small bowel, malrotation, and functional bowel obstruction is presented and illustrated in three male siblings with one long-term survivor. Including the present three cases there have been 18 similar cases found in the literature. This disorder appears to be a sex-linked recessive inheritance. Early barium meal and follow through in siblings of patients with this condition will detect malrotation that should be surgically corrected in order to prevent mid-gut volvulus. Intravenous alimentation and early introduction of enteral feeding is important, not only to maintain nutrition but to encourage adaptation of the associated short and dysmotile bowel. These measures aim to improve the outcome of this frequently, but not invariably, fatal disorder.

Hereditary pancreatitis presenting in childhood: case report with family studies.

A 12-year-old boy presented with recurrent abdominal pain and failure to thrive and was shown to have chronic calcific pancreatitis. Investigations failed to show any of the demonstrable causes of pancreatitis, but on family study four close paternal relatives were found to have had chronic pancreatitis, three with radiological calcification. No definable cause for pancreatitis had been determined in any of these relatives.

Helicobacter pylori infection within families.

Although H. pylori is now well established as the aetiological agent of acute or chronic gastritis and a predisposing factor in peptic ulceration knowledge regarding the transmission of this organism is unclear. The aim of this study was to examine the prevalence of H. pylori infection in the family members of index children infected with this organism and to examine the role of ethnic background and the relationship of hepatitis A infection to H. pylori infection. The H. pylori status of three groups of subjects, the family members of 21 children shown by endoscopical and histological examination to be infected with H. pylori, the family members of 17 children who had been the index case in a hepatitis study and a control group of Australian blood donors and children were examined using an IgG ELISA. The results of this study showed an increased prevalence of H. pylori infection to exist in the family members of index children infected with H. pylori compared with the family members of children not infected with H. pylori and an age matched blood donor control group. This increased prevalence of H. pylori infection was not dependent on ethnic background and appeared to be unrelated to the hepatitis A status of subjects. These results strongly support the view that transmission of H. pylori is person to person and that transmission may not be the faecal oral route.

Cortical vascular abnormalities in the syndrome of celiac disease, epilepsy, bilateral occipital calcifications, and folate deficiency.

The pathological changes in the syndrome of celiac disease, folate deficiency, bilateral occipital calcifications, and intractable epilepsy have not been previously described. A child with this disorder had a field defect correlating with active lateralized epileptic discharges and asymmetrical lesions. After resection of the right occipital lobe she was seizure free for 4 years. A cortical vascular abnormality with patchy pial angiomatosis, fibrosed veins, and large jagged microcalcifications was found. These pathological abnormalities were similar though not identical to those found in the Sturge-Weber syndrome.

Measurement of starch digestion of naturally 13C-enriched weaning foods, before and after partial digestion with amylase-rich flour, using a 13C breath test.

Malnutrition in infancy is a global problem which leads to retardation of childhood growth and development. There is a pressing need to improve weaning strategies for infants of the developing world. Traditional Gambian weaning foods are watery and of low energy density, but addition of energy in the form of fat and carbohydrate leads to thick, viscous gruels which are difficult to ingest. Partial digestion with amylase (EC 3.2.1.1)-rich flour reduces their viscosity while retaining their energy density. The aim of the present study was to measure the digestibility of a maize-based weaning food, before and after amylase digestion, in malnourished children using a 13C breath test. Ten children (aged 7-16 months; mean weight-for-age Z score -0.8) received isovolumetric and isoenergetic quantities of a maize-based weaning food naturally abundant with 13C. Breath samples were collected at intervals of 30 min for 5 h thereafter and 13CO2 enrichment was measured by isotope-ratio mass spectrometry. Percentage dose of 13C recovered increased from a mean 13.7 (SD 3.7)% before, to 18.3 (SD 5.6)% after ingestion of amylase-treated weaning foods (P < 0.1). There was a significant inverse relation between age and weight, and percentage dose of 13C recovered in children receiving amylase-treated feeds. There were no differences in concentrations of amylase in saliva of infants or breast milk of their mothers. Partial digestion of supplementary foods may improve the nutrition of undernourished weaning children, not only by reducing their viscosity, thereby increasing ingestion, but also by improving their digestion and thereby their absorption.

HBV associated nephrotic syndrome: resolution with oral lamivudine.

A 6 year old boy presenting with a five month history of fever, lethargy, and anorexia, was found to have hepatitis B associated membranous glomerulonephropathy and nephrotic syndrome. After two months treatment with oral lamivudine, his proteinuria cleared and serum albumin and aminotransferases normalised, associated with disappearance of hepatitis B e antigen (HBeAg) and appearance of anti-HBeAg antibodies. After 12 months, without side effects, lamivudine was discontinued. He remains well 11 months off treatment.

Acrodermatitis enteropathica, zinc, and the Paneth cell. A case report with family studies.

An infant with acrodermatitis enteropathica was studied before and after starting zinc therapy. Clinical recovery was rapid, and the plasma zinc, serum and mucosal alkaline phosphatase activities returned to normal. Light microscopy of small intestinal biopsies showed normal mucosa. Electron microscopy of the Paneth cells initially revealed abnormal inclusion bodies which disappeared during therapy, suggesting that the abnormality is secondary to zinc deficiency, and not a primary defect. These abnormal inclusions may represent altered secretory granules and a proliferation of lysosomes. We were unable to define the heterozygous state biochemically or histologically.

A clinical study of young infants after small intestinal resection.

We prospectively studied 15 infants who, before 3 months of age, underwent resection of the small intestine-proximal in 3 infants, mid in 6, and distal in 6. Two died before one year of age. Many required prolonged parenteral nutrition, but by one year, 12 of the 13 survivors were on oral feedings only, and seven were above the third percentile for height and weight. Developmental delay occurred in the early postoperative period but diminished with time. There was compensatory adaptation of the remaining gut, shown by improving fat and B12 absorption and duodenal bile-salt concentrations. Bacterial contamination complicating end-to-side anastomoses occurred in two cases (P), gastric hyperacidity in four of 12 (1P, 3M), and hyperoxaluria in eight of 14 (1P, 5M, 2D). Studies of immune competence revealed normal cellular immune function (11/11), transient hypogammaglobulinemia (3/14), hypocomplementemia (1/12), and serum autoantibodies (3/10). Thus, massive resection of the small intestine did not preclude spontaneous improvement in absorptive function, growth, and development.

The prevalence of antibody to CagA in children is not a marker for specific disease.

BACKGROUND: In adults, a high prevalence of antibody to the cytotoxin-associated antigen (CagA) of Helicobacter pylori has been linked to the development of more serious gastroduodenal disease. Few investigators have examined this association in children. The purpose of this study was to investigate the seroprevalence of antibody to the CagA antigen as well as other specific H. pylori antigens in children. METHODS: By use of an immunoblot analysis kit, the immune response to specific H. pylori antigens in serum collected from 21 H. pylori-positive symptomatic Australian children, 5 with peptic ulcer disease and 16 with nonulcer dyspepsia, and 33 H. pylori-positive asymptomatic Chinese children. Sera from 20 H. pylori-negative symptomatic Australian children were used as control subjects. RESULTS: Antibody responses to the 26.5-kDa, 30-kDa, and 116-kDa (CagA) antigens were found to be the most prevalent, with 81.5%, 79.6%, and 76% of children, respectively, mounting a response. In contrast, antibody responses to the 19.5-kDa, 35-kDa, 45-kDa, 60-kDa, 89 kDa (VacA), and 180-kDa antigens occurred in 55.5%, 24%, 16.7%, 63%, 37%, and 7.4% of children, respectively. A higher prevalence of antibody response to CagA was found in the symptomatic Australian children with peptic ulcer disease (100%) compared with prevalence in those with nonulcer dyspepsia (56.3%), but the difference did not reach statistical significance. No significant difference was found between the prevalence of antibody to CagA in the Australian peptic ulcer disease group (100%) and that in the asymptomatic Chinese children (81.8%). CONCLUSION: These results suggest that in children CagA is not a marker of specific disease development.

Helicobacter pylori infection in children: potential clues to pathogenesis.

Children (227) undergoing endoscopy for upper gastrointestinal symptoms were investigated for the presence of Helicobacter pylori infection. The histological response to H. pylori infection and the presence of antral nodularity and peptic ulceration were noted. Symptomatic adults (258) undergoing endoscopy were also investigated for the presence of nodularity. H. pylori infection was detected histologically in 32 of 227 (14.1%) children. Of those children infected with H. pylori, half (50%) had antral nodular gastritis. Of 139 H. pylori-positive adults 22 (15.8%) showed nodularity. The active component of the histological response was found to be minimal or lacking in the majority of children infected with H. pylori. Twelve of the 227 children (5.3%) had peptic ulcer disease. Of these, nine were duodenal and three gastric ulcers. Of the nine children with duodenal ulceration three (33%) were infected with H. pylori. As a result of this study we conclude that (a) although antral nodularity occurs more frequently in children it is not exclusive to childhood, (b) the polymorphonuclear response in children is less than that reported in adults, and (c) peptic ulcer disease is rare in children and the present study would suggest that in children it is less frequently associated with H. pylori infection than in adults.