Obese/overweight children have a higher prevalence of functional gastrointestinal disorders than normal-weight children. Almost half of the obese/overweight children had at least one functional gastrointestinal disorder.
Background: The COVID-19 pandemic has drastically changed healthcare systems and training around the world. The Training Committee of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) sought to understand how COVID-19 has affected pediatric gastroenterology fellowship training. Methods: A 21 question survey was distributed to all 77 pediatric gastroenterology fellowship program directors (PDs) in the NASPGHAN program director database via email on April 7.
Background & Aims
In children with liver failure, as many as half remain of indeterminate etiology. This hinders timely consideration of optimal treatment options. We posit that a significant subset of these children harbor known inherited metabolic liver diseases with atypical presentation or novel inborn errors of metabolism. We investigated the utility of whole-exome sequencing in three children with advanced liver disease of indeterminate etiology.
Methods
Patient 1 was a 10 year-old female diagnosed with Wilson disease but no detectable ATP7B mutations, and decompensated liver cirrhosis who underwent liver transplant and subsequently developed onset of neurodegenerative disease. Patient 2 was a full-term 2 day-old male with fatal acute liver failure of indeterminate etiology. Patient 3 was an 8 year-old female with progressive syndromic cholestasis of unknown etiology since age 3 months.
Results
Unbiased whole-exome sequencing of germline DNA revealed homozygous mutations in MPV17 and SERAC1 as the disease causing genes in patient 1 and 2, respectively. This is the first demonstration of SERAC1 loss-of-function associated fatal acute liver failure. Patient 1 expands the phenotypic spectrum of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. Patient 3 was found to have syndromic cholestasis due to bi-allelic NOTCH2 mutations.
Conclusions
Our findings validate the application of whole-exome sequencing in the diagnosis and management of children with advanced liver disease of indeterminate etiology, with the potential to enhance optimal selection of treatment options and adequate counseling of families. Moreover, whole-exome sequencing revealed hitherto unrecognized phenotypic spectrum of inherited metabolic liver diseases.
We found a high rate of marijuana use in our cohort of young adults with IBD. Majority of users report symptom improvement but do not inform physicians. Future well-controlled studies are necessary to assess role of marijuana in IBD therapy.
Objective
Necrotizing pancreatitis is very rare in children. In this case series, we describe the etiologic factors, course, and outcome of acute necrotizing pancreatitis in children.
Study Design
We performed a retrospective study of children with necrotizing pancreatitis diagnosed over the last 21 years at Yale New Haven Children’s Hospital. Computed tomography (CT) scan criteria were used to diagnose necrotizing pancreatitis and to assess severity index. Charts were reviewed to collect demographic data, etiology, details of hospital stay, complications, and outcome.
Results
Eight children (mean age 12.8 years; range 4 to 20.7 years) had necrotizing pancreatitis. Etiologic factors were medications, diabetes, gallstones, and alcohol. All patients had a prolonged hospitalization (9 to 40 days; mean 18 days) and five patients required admission to the pediatric intensive care unit. During the hospital stay, patients developed complications involving the respiratory, hematological, renal, metabolic, and circulatory systems. All patients had aggressive supportive medical therapy and none required surgical intervention. There were no deaths attributable to pancreatitis. Late complications following hospital discharge occurred in six patients and included pseudocysts, transient hyperglycemia, diabetes, and pancreatic exocrine insufficiency. The CT severity index correlated with the risk of complications.
Conclusions
Acute necrotizing pancreatitis has a variable etiology in children. CT scan is useful for the diagnosis and assessment of severity. Necrotizing pancreatitis in children is associated with severe acute and late complications and requires intensive medical therapy.
Mycophenolate Mofetil (MMF) is a frequently used medication for the maintenance of immunosuppression in pediatric renal transplant patients. It is known to cause mild gastrointestinal side effects. Severe colitis due to MMF is rare and is only described in adults. We report 2 children who presented with severe colitis due to MMF. Infectious and other causes of diarrhea were ruled out. Our patients had diverse histologic findings on colonic biopsies. Patient 1 had histologic features similar to inflammatory bowel disease and patient 2 to graft versus host disease. Withdrawal of MMF resulted in the complete resolution of symptoms in both patients suggesting a causal association. These cases underscore the importance of considering MMF-induced colitis in any patient who presents with diarrhea while on MMF therapy.
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