JPGN reports最新文献

Gallbladder volvulus (GV) involves the rotation of the gallbladder along its axis, resulting in torsion. This pathology is rare, more commonly found in elderly females, but can occasionally occur in pediatric patients. Diagnosis is challenging due to often atypical symptoms, with imaging and laboratory findings typically nonspecific. Prompt surgical intervention is necessary when GV is suspected to prevent significant systemic illness. Laparoscopic cholecystectomy has proven to be safe and effective in pediatric cases. In this report, we present a pediatric case of GV, initially misdiagnosed as viral-induced acalculous cholecystitis, which was effectively managed using laparoscopic cholecystectomy.

Inflammatory bowel disease (IBD) is a chronic condition, characterized by recurrent inflammation of the gastrointestinal tract. While the primary focus of IBD management consists in controlling gastrointestinal symptoms, IBD also presents an increased risk of thromboembolic complications. Tumor necrosis factor alpha (TNF-α) inhibitors, namely infliximab, have become increasingly common in the management of multiple chronic inflammatory diseases such as IBD. However, recent studies have shown an association between treatment with infliximab and an increased thrombotic risk. We report an unusual case of retinal vein thrombosis in a patient with ulcerative colitis (UC) that occurred during infliximab infusion. This case highlights the need to remain vigilant when administering infliximab to individuals with IBD, particularly those with additional risk factors for thrombosis.

Extraintestinal manifestations in inflammatory bowel disease (IBD) most frequently involve the joints, skin, and organs such as the liver and pancreas. Inflammation of the aorta is less commonly described in pediatrics, although it has been described in adults. We report a case of an adolescent female with Crohn's disease who presented with worsening diarrhea, vomiting, and weight loss, found to have aortitis on imaging. We review the pathogenesis and clinical features of Takayasu arteritis, as well as some of its similarities to IBD to raise awareness, as early detection of this less-known extraintestinal manifestation has been associated with better outcomes.

Management of choledochoceles (type III choledochal cysts) in children varies. We highlight the potential role of endoscopic management of choledochoceles with cystostomy and biliary sphincterotomy through a series of three successfully treated pediatric patients aged 12-13 at our tertiary center. Patients presented with symptoms including abdominal pain and pancreatitis. Choledochoceles were identified by preprocedure imaging on magnetic resonance imaging, with sizes ranging between 7 and 15 mm in maximal diameter. Histology revealed two choledochoceles lined by biliary epithelium and one by intestinal epithelium. Clinical improvement was sustained at a 2-year follow-up, with radiographic resolution on repeat imaging and normal tumor markers. We conclude that endoscopic management of choledochoceles with cystostomy and biliary sphincterotomy is a therapeutic option in children and can lead to sustained resolution of associated symptoms. While there is some lifetime risk of malignancy with choledochal cysts, malignancy in choledochoceles is rare.

A recent nonsyndromic phenotype, newly linked to mutations in the ZFYVE19 gene, is characterized by the appearance of cholestasis accompanied by an increase in serum gamma-glutamyltranspeptidase (GGT) from infancy or early childhood. Affected individuals generally present with hepatosplenomegaly and may develop portal hypertension. The disease is thought to be the result of cholangiocyte-specific ciliary dysfunction, indicating a ciliopathy that appears to be limited to the liver. Here, we describe the case of an infant born to first-degree consanguineous parents, in whom neonatal cholestasis accompanied by elevated GGT led to the discovery of a ZFYVE19 deficiency. The diagnosis was established following an in-depth analysis of the complete exome sequencing.

We present a case of an 8-week-old infant with acute bloody diarrhoea and subsequent passage of an intestinal cast. An extensive immune and infection work-up did not reveal a causative aetiology. Histopathology indicated the cast represented an intestinal pseudomembrane. 16S bacterial polymersae chain reaction of the pathology specimen was negative. The infant required a period of parenteral nutrition due to diarrhoeal losses but made a full recovery and had no sequelae from this illness. Intestinal casts are a rare occurrence, particularly in paediatrics. It prompts a wide differential which includes acute infection, immunodeficiency and ischaemia. Accurate quantification of stool losses, appropriate nutrition support and liaison with microbiology colleagues were essential in this case.

Acquired colonic stenosis is extremely rare in infants and surgical resection is the mainstay of treatment. Endoscopic balloon dilation has shown success in treating bowel stenosis from inflammatory bowel disease but its application in infants with colonic strictures of other origin has not been widely explored. We report a 4-week-old male infant who developed significant abdominal distension due to progressive colonic stenosis, occurring 2 weeks following balloon valvuloplasty for his severe valvular pulmonary stenosis. The progressive colonic stenosis was successfully managed through endoscopic balloon dilation. Following this procedure, he exhibited clinical improvement, with subsequent imaging revealing no remaining stricture. Over the 16-month follow-up period, no clinical features suggestive of constipation or lower gut obstruction were observed. This case serves as evidence that endoscopic balloon dilation is a promising and safe therapeutic option for treating colonic stenosis in infants.

We report a case of moderately severe acute pancreatitis, hyperglycemia, acidosis, splenic, superior mesenteric, and portal vein thrombosis in relation to multisystem inflammatory syndrome in children (MIS-C). The patient responded well to intravenous immune globulin, corticosteroids, antibiotics, systemic anticoagulation, and drainage of peripancreatic fluid. The case highlights the polymorphic presentation of MIS-C and advises high level of suspicion for unusual, severe cases unresponsive to routine care.