Paediatric pancreatitis

BACKGROUND: Disorders of immunity are poorly recognised in some rare multisystem genetic conditions. We aim to describe syndromic features and immunological defects in children with syndromic primary immunodeficiencies (sPIDs). METHODS: This is a retrospective descriptive study of children aged 0-18 years with sPIDs under the care of the paediatric immunology service at the Bristol Royal Hospital for Children, United Kingdom, from January 2006 to September 2021...

BACKGROUND: /Objective: The extent of exocrine pancreatic insufficiency (EPI) in the paediatric population with acute pancreatitis (AP) is unknown. The primary objective was to use a 6 h stable-isotope breath test to determine the prevalence of EPI in children with AP. The secondary objective was to determine the diagnostic ability of a 4 h abbreviated breath test in the detection of EPI. METHODS: 13 C-mixed triglyceride (MTG) breath test was used to measure fat digestibility in 12 children with AP and 12 normal children...

BACKGROUND: Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance is still limited using exome-only sequencing and for tumour types with low somatic mutation burden such as many paediatric tumours. Moreover, the ability to leverage deep representation learning in discovery of tumour entities remains unknown. METHODS: We introduce here Mutation-Attention (MuAt), a deep neural network to learn representations of simple and complex somatic alterations for prediction of tumour types and subtypes...

An infant girl first presented with recurrent episodes of non-bilious vomiting, having had five hospitalisations over the following months because of dehydration. Laboratory data showed no inflammatory response, normal pancreatic amylase, but increased lipase levels (between 67 and 425 U/L). Several abdominal ultrasound studies suggested an intestinal duplication cyst on left hypochondrium and, later, a dilated and irregular pancreatic duct. CT showed a bifid tailed pancreas and a change in the cyst's characteristics...

INTRODUCTION: Tuberculosis can involve any organ in the body including ocular tissue of which the uveal tissue is most commonly infected. Choroidal involvement ranges from choroidal tubercles to granulomas. This is one of the few cases of a solitary choroidal granuloma with no other systemic symptoms in an immunocompetent child. METHOD: A case report. RESULTS: A 12-year-old female, presented with diminution of vision in the left eye for a month...

Solid pseudopapillary tumour is a rare low-grade malignant potential carcinoma of the pancreas that typically occurs in females in their third decade. It most commonly occurs in the tail of the pancreas, although any site can be affected. Surgical resection is the standard treatment and offers an excellent prognosis. We report a case of a 17-year-old female with an acute onset abdominal pain and a radiological diagnosis of a cystic lesion in the distal pancreas. A robotic-assisted distal pancreatectomy with splenectomy was performed...

PURPOSE: To establish the incidence of pancreatic trauma in North Queensland to the region's only tertiary paediatric referral centre, and to determine the patient's outcomes based on their management. METHODS: A single centre, retrospective cohort study of patients < 18 years with pancreatic trauma from 2009 to 2020 was performed. There were no exclusion criteria. RESULTS: Between 2009 and 2020 there were 145 intra-abdominal trauma cases, 37% from motor vehicle accidents (MVA), 18...

Annular pancreas (AP) is a congenital anomaly and a recognised cause of duodenal obstruction which can affect all age groups. It may manifest early in the neonatal period, but it may also have varied and often delayed symptoms. We report the case of AP in an 18-month-old girl with a long history of recurrent post-prandial non-bilious vomiting treated for a long time with the clinical diagnosis of gastroesophageal reflux. Upper gastrointestinal study was suggestive of partial duodenal obstruction and computed tomography revealed a complete ring of pancreatic parenchyma surrounding the second part of the duodenum...

The most common helminthic parasitic infection inhabiting human intestine is Ascaris lumbricoides (AL). Being the largest of the helminthic family, it infects almost one billion people worldwide, but any information about local population is unavailable especially in children. When patients present with abdominal pain, having ascaris induced pancreatitis never meets the differential diagnosis list even though AL itself is highly prevalent in our part of the world. Infected patients can present with a variety of symptoms depending on the location of parasite...

BACKGROUND: Hepatocyte nuclear factor 1B (HNF1B ) is a member of the homeodomain-containing family of transcription factors located on 17q12. HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic insufficiency) and to an underdiagnosed liver involvement. Differently from HNF1A , the correlation between hepatocellular carcinoma (HCC) and germline HNF1B deficiency has been poorly evaluated...

Type 1 diabetes (T1D) is a chronic autoimmune metabolic disorder with onset in pediatric/adolescent age, characterized by insufficient insulin production, due to a progressive destruction of pancreatic β-cells. Evidence on the correlation between the human gut microbiota (GM) composition and T1D insurgence has been recently reported. In particular, 16S rRNA-based metagenomics has been intensively employed in the last decade in a number of investigations focused on GM representation in relation to a pre-disease state or to a response to clinical treatments...

OBJECTIVES: to update the Italian estimates of survival for patients with a paediatric cancer, tobacco smoke-associated cancers, and cancers targeted by screening; to assess geographical differences. DESIGN: population-based descriptive study. SETTING AND PARTICIPANTS: incident cancer cases diagnosed in 2010-2014, with follow-up to 2018, from 17 Italian cancer registries (covering 31% of the national population; 43% of the population residing in the North-Centre of the country and 8% of the population living in the South and Islands)...

A rare pathology, the solid pseudopapillary epithelial neoplasm (SPEN) of the pancreas accounts for approximately 1% of pancreatic neoplasms. Initially called 'Frantz's tumour', it has now been renamed to SPEN by the World Health Organization (WHO). This tumour has a predilection for females and a good prognosis with surgical excision being the treatment of choice. Palpable abdominal masses in children are of significant clinical importance. Identifying cystic lesions in the pancreas from CT or MRI scans always warrant further investigations...

BACKGROUND: Evidence on the effectiveness of proton pump inhibitors (PPI) as adjuvant therapy to improve maldigestion in people with cystic fibrosis (pwCF) is limited and there is increasing concern on possible side effects. METHODS: We conducted a matched cohort study based on paediatric and adult pwCF who received PPI for ≥3 months. Treated patients were matched to a group of patients who never received PPI using a nearest neighbour propensity score matching based on sex, year of birth, CFTR genotype and pancreatic insufficiency...

Over the last one-decade, endoscopic ultrasound (EUS)-guided drainage has evolved as a preferred modality for treating pseudocyst over conventional surgical or radiological procedures among adults using plastic stents or lumen opposing stents; however, studies on EUS-guided pancreatic of pseudocyst among children are mainly in the form of case reports or small case series. Therefore, we aimed to describe four pediatric cases of the pseudo-pancreatic cyst treated successfully with EUS-guided cysto-gastrostomy using plastic stents...

Childhood-onset type 1 diabetes mellitus (DM) is a common chronic metabolic disease associated with life-threatening complications. Diabetic ketoacidosis (DKA) is an acute complication of type 1 DM that has significant mortality mostly due to cerebral edema. Other putative complications of DKA include hypokalemia, hypophosphatemia, hypoglycemia, intracerebral and peripheral venous thrombosis, rhabdomyolysis, acute pancreatitis, and acute kidney injury (AKI) (Murdoch IA et al., Acta Paediatr 1993; 82:498-500)...

Paediatric chronic pancreatitis (CP) is a relatively rare entity, but it can be accompanied by debilitating complications such as pseudocysts, chronic pain and pancreatic duct obstruction. Surgical drainage procedures, such as pancreaticojejunostomy or cystogastrostomy/jejunostomy to address these complications may be required; however, there is a paucity of evidence as to the efficacy and long-term outcomes of these operations in the paediatric population. A scoping review of contemporary (post-2000) studies detailing surgical pancreatic drainage procedures performed in children (< 18 years) was undertaken...

Thioguanine (TG) has been shown a safe alternative in adults with inflammatory bowel disease (IBD) who did not tolerate conventional thiopurines (azathioprine/mercaptopurine). However, data in pediatric IBD is scarce. This retrospective, multicenter cohort study of children with IBD on TG aimed to assess the safety of TG as maintenance therapy. Thioguanine-related adverse events (AE) were assessed and listed according to the common terminology criteria for AE. Thirty-six children with IBD (median age 14.5 years) on TG (median dose 15 mg/day) were included in six centers...

INTRODUCTION: Drug-induced diabetes mellitus (DIDM) could be defined as a heterogenic group of diabetes caused by pharmacotherapy. The DIDM is considered to be reversible after discontinuation of diabetogenic treatment, but there is a risk of persistence, which is related to the duration of treatment, prescribed medication, and body mass index. CASE PRESENTATION: A 13-year-old boy treated for nephrotic syndrome with the use of tacrolimus and prednisone was diagnosed with diabetes during a check-up visit...

OBJECTIVE: To analyse the association of faecal calprotectin with the genetic and clinical characteristics of paediatric patients with cystic fibrosis (PwCF). In a subset of these patients, we aimed to associate histological inflammatory features of rectal mucosa to faecal calprotectin levels. METHODS: In a prospective study, faecal calprotectin levels were collected in all 23 PwCF attending our paediatric centre, together with demographic and clinical data. Associations between faecal calprotectin and clinical features were determined...