Drug‐induced vanishing bile duct syndrome (VBDS) is a rare complication of severe cholestatic hepatitis characterized by progressive ductopenia despite withdrawal of the offending agent. Prognosis ranges from gradual recovery to liver failure requiring transplantation. We report the first known pediatric case of biopsy‐confirmed VBDS following atovaquone–proguanil exposure. An 11‐year‐old girl developed severe cholestatic hepatitis approximately 2 months after a 21‐day course of malaria prophylaxis. Liver biopsy demonstrated marked ductopenia, with bile ducts identified in only 2 of 22 portal tracts. Despite a severe presentation, she achieved complete biochemical and clinical recovery within 6 months. This case expands the spectrum of drug‐induced VBDS in children and highlights the potential for favorable outcomes despite significant duct loss.
A 16‐year‐old male presented with acute abdominal pain, nausea, and distension and was found to have severe gastric dilation on imaging. Antroduodenal manometry showed erythromycin‐induced phase 3 migrating motor complex beginning in the antrum but post‐prandial antral hypoactivity. Mitochondrial DNA sequencing was normal. Exome analysis revealed a rare variant of uncertain significance in the smooth muscle myosin heavy chain 11 ( MYH11 ) gene (NM_002474.3: c.4123G>A, p.Asp1375Asn), which is necessary for smooth muscle contraction. Pathogenic MYH11 alterations cause multiple disorders, including autosomal dominant (AD) familial thoracic aortic aneurysm, AD visceral myopathy, and autosomal recessive megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome. Amino acid p.Asp1375 is within the rod region of the MYH11 protein that self‐assembles to form thick filaments; thus, pathogenic variants in this region may affect filament formation and impair interactions with thin filaments. While the phenotype overlap is compelling, further research is needed to determine the clinical significance of this alteration.
Abstract Objective To evaluate current international clinical practice in the assessment and management of rectal stump disease activity following colectomy in paediatric ulcerative colitis (UC). Methods A web‐based survey comprising 18 questions was distributed to paediatric gastroenterologists via European Porto inflammatory bowel disease (IBD) interest group and North America and the United Kingdom pediatric inflammatory bowel disease (PIBD) network groups over 6 months. The questionnaire recorded centre demographics, colectomy practices, rectal stump assessment methods, and management approaches. Responses were analysed using descriptive statistics with subgroup analysis by continent and centre size. Results Eighty paediatric gastroenterologists from 24 countries completed the survey. Most centres ( n = 62, 78%) reported fewer than five colectomies annually, with 59% indicating that all patients retained a rectal stump for at least 3 months post‐colectomy. Only 11% of centres had a formal protocol for rectal stump management. Clinical assessment tools varied, with 39% using none, and the remainder favouring Pediatric Ulcerative Colitis Activity Index (PUCAI) or Physician's Global Assessment. Frank rectal bleeding and painful rectal discharge were rated as the most significant symptoms. Endoscopy and histology were the most common investigations. Rectal therapy was the preferred first‐line treatment for rectal stump disease recurrence, followed by systemic therapy and observation. There was wide variation in estimates of rectal disease activity at 6 months post‐colectomy. Conclusions There is considerable international variation and lack of standardisation in the management of rectal stump disease in paediatric UC. These findings underscore the need for evidence‐based guidelines and collaborative research to optimise care for this understudied population.
Abstract Teduglutide is a glucagon‐like peptide‐2 (GLP‐2) analog that promotes intestinal adaptation with a goal of reducing dependence on parenteral nutrition (PN) in those with short bowel syndrome (SBS). We describe a 2‐year‐old, born at 26 weeks gestation, with a history of PN dependency due to recurrent necrotizing enterocolitis (NEC) and secondary small bowel resections resulting in 90 cm of small bowel (without ileocecal valve, intact colon), who demonstrated a remarkable response to teduglutide. The patient herein had full discontinuation of PN in 1 month with enhanced immunity to gastrointestinal (GI) illness with the use of GLP‐2 analog. This case offers new insight into teduglutide, potentially augmenting intestinal immunity. This patient revealed heightened response to GI infections while on teduglutide, yet poor tolerance to the same infection with missed dosing. To our knowledge, this is the first report on teduglutide possibly augmenting immunity.
