Agenesis of the dorsal pancreas (ADP) is a rare congenital anomaly that occurs when the body and tail of the pancreas fail to develop from the dorsal bud in utero. ADP may be discovered when evaluating conditions arising from the anomaly, such as diabetes mellitus, pancreatitis, and pancreatic insufficiency, but is more commonly found as an incidental finding. To date, fewer than 120 cases have been reported in the literature. We report a 6-year-old male who was found to have ADP on computed tomography during the investigation of abdominal pain and vomiting. We review the variable presentation, genetic mutations, and age-related differences between children and adults with this rare condition.
We describe a case of segmental arterial mediolysis (SAM) in a 2-year-old male who presented with symptoms of acute pancreatitis. SAM is a vascular entity of unknown etiology that involves medium-sized arteries in which the integrity of the vessel wall is compromised, resulting in increased susceptibility to ischemia, hemorrhage, and dissection. The clinical presentation is variable and can range from abdominal pain to more ominous findings of abdominal hemorrhage or organ infarction. This entity should be considered in the correct clinical setting and after other vasculopathies have been excluded. We aim to bring awareness to pediatric providers given this is a rare entity with variable presentation, which could be potentially life threatening.
Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene are a rare cause of congenital enteropathy that can result in significant morbidity. TTC7A deficiency leads to disruption of the intestinal epithelium. The histopathology of this condition has been partly described in case reports and clinical studies. This manuscript describes an in-depth investigation of the pediatric gastrointestinal pathology of the largest histologically examined cohort with confirmed TTC7A mutations reported to date and, for the first time, compared the findings to age-matched and sex-matched control patients with intestinal atresia not thought to be associated with TTC7A mutations. Hematoxylin and eosin-stained slides of endoscopically obtained mucosal biopsies and surgical resection specimens from 7 patients with known TTC7A mutations were examined retrospectively. The microscopic findings were found to be on a spectrum from atresia-predominant to those with predominantly epithelial abnormalities. Several unique histopathologic characteristics were observed when compared with controls. These included neutrophilic colitis and prominent lamina propria eosinophilia throughout the gastrointestinal tract. Striking architectural abnormalities of the epithelium were observed in 4 of the 7 patients. The 5 patients with intestinal atresia demonstrated hypertrophy and disorganization of the colonic muscularis mucosae accompanied by bland spindle cell nodules within the intestinal wall. The components of the latter were further elucidated using immunohistochemistry, and we subsequently hypothesize that they represent obliterated mucosa with remnants of the muscularis mucosae. Finally, atrophic gastritis was noted in 4 patients. In conclusion, the unique histopathologic characteristics of TTC7A mutation-associated enteropathy described herein more fully describe this novel disease entity in infants who present with congenital enteropathy or enterocolitis.
Germ-Line Mutation , Intestinal Atresia , Proteins , Severe Combined Immunodeficiency , Child , Humans , Infant , Intestinal Atresia/genetics , Intestinal Mucosa/pathology , Intestines/abnormalities , Proteins/genetics , Retrospective Studies , Severe Combined Immunodeficiency/genetics , Severe Combined Immunodeficiency/pathology
Eosinophilic esophagitis (EoE) is a disease entity that has become increasingly recognized in the pediatric population over the last decade and was first recognized as early as 1990. EoE is a clinicopathologic diagnosis with signs and symptoms varying between age groups. The clinical presentation of EoE is variable ranging from milder nonspecific symptoms, such as abdominal pain, vomiting, and dyspepsia, to more severe presentations such as failure to thrive, dysphagia and even food impaction and is dependent on age of diagnosis 2. There is growing body of evidence with regards to the pathophysiology, diagnostic modalities, and treatment options for EoE in the past decade. In this review article, we aim to discuss the disease burden, pathophysiology, diagnostic strategies, and currently available treatment options for EoE based on existing literature.
Eosinophilic Esophagitis , Child , Eosinophilic Esophagitis/diagnosis , Eosinophilic Esophagitis/epidemiology , Eosinophilic Esophagitis/physiopathology , Eosinophilic Esophagitis/therapy , Humans
Background: Dietary modification shows promise as therapy in inflammatory bowel disease (IBD); however, it is unknown whether adolescents are interested in a dietary approach. Methods: Cross-sectional survey of adolescents with IBD ages 14-21 on disease knowledge, dietary habits, and perceptions of diet therapy. Results: A total of 132 subjects (48.5% female), mean age of 17.8 years and median disease length of 5 years (range 0, 16), completed the survey. Diet was perceived as a symptom trigger by 59.8% of subjects, and 45.4% had tried using diet as a treatment for symptom resolution, often without physician supervision and with limited success. Subjects experiencing active disease symptoms as determined by Manitoba IBD Index were more likely to be currently modifying their diet compared to subjects without active disease symptoms (odds ratio = 4.11, confidence interval = 1.58, 10.73, P = 0.003). Conclusions: Adolescents with IBD perceive a relationship between diet and disease symptoms and are interested in dietary modification as a symptom management option.
PURPOSE OF REVIEW: Irritable bowel syndrome (IBS) is the most common functional gastrointestinal disorder (FGID) encountered by the pediatrician and consultant. The primary focus of this review is to provide an update on beneficial nutritional interventions for managing this patient population with discussion on gut microbiome effects. RECENT FINDINGS: A common complaint among the pediatric population is IBS-related recurrent abdominal pain. The prevalence of IBS is estimated to range between 6 and 14% and is defined by the Rome III criteria for FGIDs. Recent studies highlight the role of nutritional interventions in mitigating symptoms of IBS. Although eliminating foods that aggravate IBS gastrointestinal symptoms have become a main nutritional approach for acute management of IBS, recent literature reflects how this may impact the gut microbiome and potentially have long-term implications. SUMMARY: There are emerging studies suggesting IBS symptomatic improvement with different dietary interventions in the pediatric population, but most of what is known at this time has been extrapolated from the adult literature.
Irritable Bowel Syndrome/diet therapy , Child , Diet, Carbohydrate-Restricted , Diet, Mediterranean , Gastrointestinal Microbiome , Humans , Irritable Bowel Syndrome/diagnosis , Irritable Bowel Syndrome/microbiology , Probiotics/therapeutic use
OBJECTIVES: The protein-sparing modified fast (PSMF) is a rigorous way of rapidly losing a large amount of weight. Although adult studies have shown the PSMF to be effective, data in adolescents are lacking. The aim of this study was to determine the efficacy and safety of the PSMF in severely obese adolescents. METHODS: 12 subjects who were evaluated in the Obesity Management Program at the Cleveland Clinic from 2011 to 2014 were included. The subjects were initiated on the PSMF after failing other conventional methods of weight loss. Once the goal weight was achieved, subjects were transitioned to the refeeding phase for weight maintenance. RESULTS: Follow-up was scheduled at 3-month (11 patients) and 6-month (6 patients) intervals. At the 6-month follow-up visit, the average weight loss was 11.19 kg (95% confidence interval = -5.4, -27.8, P = .028), with average of 9.8% from baseline. Fifty percent of subjects had >5% weight loss and 20% had >10% weight loss. Four patients were lost to the follow-up (40%). An improvement was noted in total cholesterol and high-density lipoprotein. Due to a small sample size these results were not statistically significant. Side effects reported by subjects were mild dehydration due to nausea (2 patients), decreased energy (1 patient), and transient labile mood (1 patient). No life-threatening side effects were reported. CONCLUSION: Our results show that the PSMF diet can be used as an effective and safe method in the outpatient setting for rapid weight loss in adolescents with severe obesity.
