Ulcerative jejunitis in a child with celiac disease.

BACKGROUND: Celiac disease can present in children and adults with a variety of manifestations including a rare complication known as ulcerative jejunitis. The latter has been associated with refractory celiac disease in adult onset patients. The objective of this case report is to describe the first pediatric case of ulcerative jejunitis in celiac disease, diagnosed by capsule endoscopy, which was not associated with refractory celiac disease. CASE PRESENTATION: The 9 year old girl presented with a history of abdominal pain and vomiting. Laboratory investigations revealed a slightly elevated IgA tissue transglutaminase antibody level in the setting of serum IgA deficiency. Initial upper endoscopy with biopsies was not conclusive for celiac disease. Further investigations included positive IgA anti-endomysium antibody, and positive HLA DQ2 typing. Video capsule endoscopy showed delayed appearance of villi until the proximal to mid jejunum and jejunal mucosal ulcerations. Push enteroscopy with biopsies subsequently confirmed the diagnosis of celiac disease and ulcerative jejunitis. Immunohistochemical studies of the intraepithelial lymphocytes and PCR amplification revealed surface expression of CD3 and CD8 and oligoclonal T cell populations. A repeat capsule study and upper endoscopy, 1 year and 4 years following a strict gluten free diet showed endoscopic and histological normalization of the small bowel. CONCLUSION: Ulcerative jejunitis in association with celiac disease has never previously been described in children. Capsule endoscopy was essential to both the diagnosis of celiac disease and its associated ulcerative jejunitis. The repeat capsule endoscopy findings, one year following institution of a gluten free diet, also suggest that ulcerative jejunitis is not always associated with refractory celiac disease and does not necessarily dictate a poor outcome.

Primary Gastric Malignant Melanoma in a 68-Year-Old Woman: A Case Report and Review of the Literature.

Non-cutaneous melanoma is a very rare clinical entity. Gastric melanoma can be primary or secondary, but determining their nature is in most cases very challenging. To date, very few cases of primary gastric melanoma have been described in the literature. We report the first case of primary gastric melanoma documented in a Romanian patient, confirmed through clinical, imagistic, and pathological diagnosis. A 68-year-old female patient presented to our hospital with complaints of dyspepsia, abdominal pain, and weight loss. Esophagogastroduodenoscopy revealed two large sessile masses in the gastric fundus, which was histologically compatible with melanoma; immunohistochemistry staining was positive for vimentin, S100 protein, HMB45 antibody and Melan A/MART1, and negative for pan-CKAE1/AE3, leukocyte common antigen and DOG1. Extensive dermatological and ophthalmological examinations did not identify a primary lesion. The patient was therefore diagnosed with primary melanoma of the stomach. At the time of the diagnosis, multiple bone and pulmonary metastases were detected and considering the poor general status of the patient, surgery was not recommended. She died three months following diagnosis. A review of the literature identified only 32 other reported cases of primary gastric melanoma, all in individuals ≥50 years of age and most of them in male patients. Partial or total gastrectomy was the usual treatment of choice, but prognosis was overall poor. Awareness of this rare condition must be increased among healthcare providers, as early detection can improve survival chances.

IL-10 and TNF-alpha promoter haplotypes are associated with childhood Crohn's disease location.

AIM: To determine the distribution and frequencies of the genotypes and haplotypes of the genes encoding for the glucocorticoid receptor (GR), the tumor necrosis factor (TNF)-alpha and the interleukin (IL)-10 in childhood Crohn's disease (CD) and to assess the impact of the corresponding DNA variants on clinical and disease phenotypes. METHODS: Ten variants in GR, TNF-alpha and IL-10 were genotyped in 113 childhood CD cases and 95 healthy subjects, both of French-Canadian origin. RESULTS: For the GR polymorphisms (R23K and N363S) and IL-10 variants in the 5'flanking region (-1082 G > A, -819 T > C and -592 A > C), no difference was observed in allele and genotype frequencies between CD patients and controls. At the haplotype level, we found three IL-10 haplotypes previously described in Caucasians (GCC, ACC and ATA) and three novel haplotypes only present in IBD patients. When we analyzed the haplotype distribution with the anatomical location of the disease, the GCC haplotype was associated with the colonic and the ACC haplotype with the terminal ileum location, respectively. The genotyping of five polymorphisms in the promoter region of the TNF-alpha gene (-1031 T > C, -863 A > C, -857 T > C, -308 A > G and -238 A > G) revealed a significant overrepresentation of homozygous -1031 CC among CD patients (OR = 9.9) and an association with the colonic location. For TNF-alpha, eleven haplotypes were inferred, including two frequent ones, TCCGG and CACGG, which were significantly observed more frequently in controls and cases, respectively. CONCLUSION: This is one of the first studies investigating the association between haplotype structure and disease location in a CD pediatric cohort. Our results will help to increase our understanding of the genetic determinants of childhood CD.

Utility of serological markers in predicting the early occurrence of complications and surgery in pediatric Crohn's disease patients.

BACKGROUND AND OBJECTIVES: Many Crohn's disease (CD) patients develop complications (fistulae and abscesses), and require surgery, often repeatedly and at variable instances. Identifying serological markers that determine their early or repeated manifestation can enable implementing more aggressive preventive strategies. Our objective was to study the ability of serological markers for predicting development of early (first) and recurrent complications or requirement for surgery. METHODS: Serum anti-Saccharomyces cervisiae (ASCA) (IgA & IgG) and perinuclear antineutrophil cytoplasmic antibodies (pANCA) were assayed close to diagnosis in a pediatric cohort of CD patients identified between 1996 and 1998. At diagnosis and follow-up, information was acquired on demographic and clinical features of disease. Relation between ASCA and clinical events was studied using adjusted Cox-proportional hazards modeling. The relative rates of recurrent clinical events according to the marker measures were compared. RESULTS: The mean age (SD) at diagnosis was 11.2 (3.4) yr. Among 139 patients, 35 (25.9%) and 31 (22.3%) acquired one or more CD related surgery or complication, respectively. Time to occurrence of the first complication was lower among patients ASCA+ (IgA or IgG) (hazards ratio (HR) = 2.33; 95% confidence interval (CI) = 0.99-5.50) and among those with higher ASCA-IgA titers (HR = 1.20; 95% CI = 1.08-1.34). The rates of recurrent complications were higher among those positive or with higher ASCA titers. ASCA did not predict time to undergoing surgery independent of complications, and was unrelated to the occurrence of recurrent surgeries. CONCLUSIONS: Our study shows that serum ASCA measured close to diagnosis can determine the occurrence of early complications in pediatric CD. Preventive treatment targeted toward these susceptible patients could potentially modify the disease course.

Investigating the hygiene hypothesis as a risk factor in pediatric onset Crohn's disease: a case-control study.

BACKGROUND AND OBJECTIVES: Evidence for the hygiene hypothesis in the etiology of Crohn's disease (CD) is unclear. We investigated the relationship between infection-related exposures and risk for CD in children. METHODS: A hospital-based case-control was carried out. Newly-diagnosed cases of CD (n = 194), less than 20 yr of age were recruited from the gastroenterology clinic of a large-pediatric inflammatory bowel disease (IBD) center in Montreal, Canada. Orthopedic patients pair-matched (n = 194) for timing of diagnosis and area of residence were recruited as controls. Information on infection-related exposures between birth and disease diagnosis was ascertained by administering a structured questionnaire to the mother and the index subject. The relationship between the frequency and timing of infection-related exposures with CD was studied. RESULTS: The mean age (SD) at diagnosis was 12.3 (5.1). CD was more common after 10 yr of age. Gender distribution was similar between comparison groups. In multivariate conditional logistic regression, family history of IBD (odds ratio (OR) = 4.6; 95% confidence interval (CI) = 1.6-13.3), age (OR = 1.2; 95% CI = 1.1-1.3), and owning a pet (OR = 2.0; 95% CI = 0.9-4.5) were associated with risk for CD, whereas regular use of a personal towel (OR = 0.5; 95% CI = 0.2-0.9) and lesser crowding in homes (OR = 0.3; 95% CI = 0.1-0.8) were protective. Day-care attendance during the first 6 months of life and "physician-diagnosed infections" between 5 and 10 yr of age were associated with increased risks for CD. CONCLUSIONS: Infection-related exposures seem to enhance risk for CD in children. The timing of these exposures during early childhood may be relevant to the etiology of pediatric CD.