Not all pediatric intestinal polyps are alike.

BACKGROUND/AIMS: In childhood, clinical presentation of intes- tinal polyps is variable. Painless rectal red blood loss is the most common presenting sign. Most polyps are sporadic, isolated and benign. However, it is important to correctly identify exceptions. Rare inherited polyposis syndromes need to be recognized because of their increased risk of intestinal and extra-intestinal malignancies. Furthermore, a correct diagnosis and treatment of rare gastro-intestinal malignancies is crucial. METHODS: Between 2016 and 2018 we encountered 4 different types of intestinal polyps. A database search was performed and patient files were checked for clinical manifestations and histo- pathology. Literature was searched to recapitulate red flags for these syndromes, probability of underlying genetic disorders and diagnostic criteria. RESULTS: Between 2016 and 2018, 28 patients presented at the Ghent University Hospital with 30 juvenile polyps. Furthermore, we diagnosed juvenile polyposis syndrome, Li Fraumeni syndrome and familial adenomatous polyposis (FAP) in 1 patient each, whilst 2 FAP patients were in follow-up. Each of these diagnoses has a different lifetime risk of (extra)-intestinal malignancy and requires a different approach and follow-up. Histopathology and genetic testing play an important role in identifying these syndromes in pediatric patients. CONCLUSION: Although most intestinal polyps in childhood are benign juvenile polyps that require no follow-up, rare inherited syndromes should be considered and correctly diagnosed since adequate follow-up is necessary to reduce morbidity and mortality from both gastrointestinal and extraintestinal complications and malignancies.

Acid-base disturbances in dehydrated patients with cystic fibrosis : four case reports with review of literature.

Most episodes of vomiting, reduced intake and diarrhoea in children can be evaluated and treated without additional tests. However, when the degree of clinical dehydration is not in line with the patient's medical history, other diagnoses should be suspected. In the presence of a hyponatraemic hypochloraemic metabolic alkalosis, cystic fibrosis (CF) should be included in the differential diagnosis, especially if there is failure to thrive even in the absence of respiratory symptoms. Furthermore, young patients diagnosed with CF have a higher risk for an acute electrolyte decompensation caused by increased salt and fluid losses. We present 4 paediatric cases to raise the awareness of electrolyte disturbances in CF patients.

Constipation and fecal incontinence in children with cerebral palsy. Overview of literature and flowchart for a stepwise approach.

BACKGROUND AND STUDY AIMS: Constipation and fecal incontinence are common problems in neurologically impaired children. This paper aims to give an overview on bowel problems in cerebral palsy children and to suggest a stepwise treatment approach. A pubmed search was performed looking at studies during the past 20 years investigating bowel problems in neurologically disabled children. RESULTS: The search revealed 15 articles. Prevalence and presentation was the subject of 8 papers, confirming the importance of the problem in these children. The other papers studied the results of different treatment modalities. No significant differences between treatment modalities could be demonstrated due to small studied cohorts. Therefore, no specific treatment strategy is currently available. An experienced based stepwise approach is proposed starting with normalization of fiber intake. The evaluation of the colon transit time could help in deciding whether desimpaction and eventually laxatives including both osmotic (lactulose, macrogol) as well as stimulant laxatives might be indicated. Or, in case of fast transit loperamide or psyllium can be tried. Surgery should be a last resort option. CONCLUSION: Studies investigating constipation and continence in neurologically impaired children are scarce, making it difficult to choose for the optimal treatment. A stepwise treatment approach is proposed, measuring the colon transit time to guide treatment choices.

Rectal red blood loss in a healthy toddler is not always a juvenile polyp.

Aim Heterotopic gastric mucosa is a well-known congenital anomaly in Meckel's diverticula and duplication cysts. Solitary heterotopic gastric mucosa in the rectum is a rare and frequently overlooked abnormality. Starting from a patient history, the literature is searched and all cases reported over the past 20 years are reviewed and compared to a summary of the older cases. Differences between adult and childhood presentation are outlined and our patient is compared with prior reported cases. Case A 3-year-old girl presented with recurrent rectal blood loss caused by heterotopic gastric mucosa without duplication cyst. She was endoscopically treated with two-stage endoscopic surgical dissection (ESD). Up to now, rectal heterotopic gastric mucosa has been reported in 34 adults and 24 children, including this patient. There is an overall male dominance (69%). Presenting complaints in children were recurrent fresh blood loss per anum (96%), pain (46%), perineal ulcers (25%), diarrhoea (8%) and one patient had an ano-cutaneous fistula. Endoscopy revealed a mucosal elevation with a slightly different aspect (33%), a polyp (42%) and a solitary ulcer (25%). Endoscopy in adults reveals more frequently polyps compared to children. Treatment in childhood is mainly surgical where adults are more frequently treated with endoscopic techniques. Conclusion In a child with recurrent rectal bleeding in good general health, it is important to withhold heterotopic gastric mucosa in the differential diagnosis and take sufficient biopsies during endoscopy.

Raised immunoglobulin A and circulating T follicular helper cells are linked to the development of food allergy in paediatric liver transplant patients.

BACKGROUND: Post-transplant food allergy (LTFA) is increasingly observed after paediatric liver transplantation (LT). Although the immunopathology of LTFA remains unclear, immunoglobulin (Ig) E seems to be implicated. OBJECTIVE: To study humoral and cellular immunity in paediatric LT patients in search for factors associated with LTFA, and compare with healthy controls (HC) and non-transplant food-allergic children (FA). METHODS: We studied serum Ig levels in 29 LTFA, 43 non-food-allergic LT patients (LTnoFA), 21 FA patients and 36 HC. Serum-specific IgA and IgE against common food allergens in LTFA, IgA1 , IgA2 and joining-chain-containing polymeric IgA (pIgA) were measured. Peripheral blood mononuclear cells were analysed by flow cytometry for B and T cell populations of interest. RESULTS: Serum IgA and specific IgA were higher in LTFA compared to LTnoFA. LTFA patients had the highest proportion of circulating T follicular helper cells (cTfh). The percentage of cTfh correlated positively with serum IgA. Unique in LTFA was also the significant increase in serum markers of mucosal IgA and the decrease in the Th17 subset of CXCR5(-) CD4(+) cells compared to HC. Both LT patients exhibited a rise in IgA(+) memory B cells and plasmablasts compared to HC and FA. CONCLUSIONS: LT has an impact on humoral immunity, remarkably in those patients developing FA. The increase in serum markers of mucosal IgA, food allergen-specific IgA and cTfh cells observed in LTFA, point towards a disturbance in intestinal immune homoeostasis in this patient group.

Calcineurin inhibitors dampen humoral immunity by acting directly on naive B cells.

Calcineurin inhibitors (CNI), used frequently in solid organ transplant patients, are known to inhibit T cell proliferation, but their effect on humoral immunity is far less studied. Total and naive B cells from healthy adult donors were cultured in immunoglobulin (Ig)A- or IgG/IgE-promoting conditions with increasing doses of cyclosporin, tacrolimus, rapamycin or methylprednisolone. The effect on cell number, cell division, plasmablast differentiation and class-switching was tested. To examine the effect on T follicular helper (Tfh) cell differentiation, naive CD4(+) T cells were cultured with interleukin (IL)-12 and titrated immunosuppressive drug (IS) concentrations. Total B cell function was not affected by CNI. However, naive B cell proliferation was inhibited by cyclosporin and both CNI decreased plasmablast differentiation. Both CNI suppressed IgA, whereas only cyclosporin inhibited IgE class-switching. Rapamycin had a strong inhibitory effect on B cell function. Strikingly, methylprednisolone, increased plasmablast differentiation and IgE class-switching from naive B cells. Differentiation of Tfh cells decreased with increasing IS doses. CNI affected humoral immunity directly by suppressing naive B cells. CNI, as well as rapamycin and methylprednisolone, inhibited the in-vitro differentiation of Tfh from naive CD4(+) T cells. In view of its potent suppressive effect on B cell function and Tfh cell differentiation, rapamycin might be an interesting candidate in the management of B cell mediated complications post solid organ transplantation.

Achromobacter xylosoxidans induced bronchiolitis obliterans in cystic fibrosis.

We report a 12-year-old boy with progressive bronchiolitis obliterans caused by Achromobacter xylosoxidans (Ax) colonization after liver transplantation, resulting in a steep decline in lung function.

[Colon transit time in children and young adults with open spinal dysraphism]. / Temps du transit colique chez l'enfant atteint de dysraphisme ouvert.

INTRODUCTION: Patients with open spinal dysraphism (OSD) frequently present constipation and incontinence requiring treatment. AIM: Evaluation of colon transit time (CTT) in patients with OSD, in relation to neural lesion, mobility, bowel habits, and continence status. METHODS: OSD patients aged between 6 and 20 years, who did not use antegrade enemas, were invited to participate in the study. Data from the medical file and information retrieved by questionnaires for constipation and incontinence were collected. The control group consisted of 13 healthy age-matched children. CTT was measured using the 6-day pellet method with an abdominal X-ray on day 7. Laxatives were continued and retrograde colon enemas were stopped 48h prior the X-ray. RESULTS: Thirty of the 33 patients who met the inclusion criteria agreed to participate. Twelve (40%) patients were constipated (Rome III criteria) despite treatment. Fifteen (50%) were continent, with or without treatment. Total CTT was significantly longer in OSD patients (median CTT: 86.4h vs. 43.2h controls). Constipated OSD patients had a significantly prolonged CTT compared to non-constipated patients (CTT: 125.4h vs. 51.6h). Spontaneous continent OSD patients had a normal CTT (CTT: 33.6h). An abnormal CTT predicted the necessity of treatment to achieve continence (P<0.006). CONCLUSION: CTT in OSD patients is significantly prolonged, indicating a neurogenic involvement of the bowel and a slow transit constipation. An abnormal CTT predicts the necessity of therapy to achieve fecal continence.

Serum protein N-glycosylation in paediatric non-alcoholic fatty liver disease.

OBJECTIVE: We have previously shown the potential of glycomics to distinguish patients with steatosis from patients with non-alcoholic steatohepatitis (NASH) in an adult population. The pattern of disease in paediatric patients is distinct from adults. The objective of this study was to characterize the N -glycomic profile of children with varying degrees of non-alcoholic fatty liver disease (NAFLD) and identify potential biomarker profiles of disease. METHODS: Serum protein N-glycosylation patterns of 51 paediatric NAFLD patients were assessed with deoxyribonucleic acid sequencer-assisted fluorophore-assisted capillary electrophoresis and compared with histology. RESULTS: Peak 1 (NGA2F) is the most significantly elevated N-glycan in paediatric NASH patients with peak 5 (NA2) demonstrating the largest decrease. The logarithmically transformed ratio of peak 1 to peak 5 was -0.85 (standard deviation [SD] 0.22) in patients with steatosis and borderline NASH and -0.73 (SD 0.12) in NASH (P = 0.02). The biomarker correlated well with the amount of lobular inflammation with a consistent increase of marker score in ascending stage of lobular inflammation. There was also a trend in differentiating patients with significant fibrosis ≥F2; -0.74 (SD 0.13) from patients with no/minimal fibrosis

Acute pancreatitis complicated with choledochal duct rupture.

Recurrent acute pancreatitis is a rare clinical entity in childhood with unknown incidence (Rosendahl et al., 2007) and often occurring in a familial context. Genetic factors such as PRSS1 mutations (cationic trypsinogen gene) can be found in some patients. However, many remain idiopathic. The natural history remains poorly documented and the most frequent complications reported are pain, exocrine pancreatic insufficiency, diabetes mellitus, and pancreatic adenocarcinoma after long-standing hereditary pancreatitis. We describe a patient with hereditary pancreatitis in whom a mild pancreatitis episode was complicated by a perforation of the ductus choledochus.

Gastric dysmotility following orthopaedic scoliosis surgery in patients with cerebral palsy: a case series.

Scoliosis is a common complication in children with cerebral palsy (CP). In these patients, surgical correction carries a high risk of complications. CP is also associated with gastrointestinal dysmotility such as delayed gastric emptying and gastro-oesophageal reflux. We describe 5 patients with CP in whom symptoms of gastric dysmotility clearly exacerbated after orthopaedic scoliosis surgery. They all showed persisting vomiting, nausea, bloating, weight loss, and anorexia necessitating total parental nutrition and/or jejunal feeding. This intensified nutritional support resulted in weight gain. Symptoms, however, persisted in half of the patients. The aetiology of these gastro-intestinal motility problems following scoliosis surgery remains unclear. Mechanical obstruction needs to be ruled out. Delayed gastric emptying may be due to postprandial antral hypomotility as a consequence of sympathic stimulation. Malnutrition could further aggravate gastrointestinal dysmotility. This complication should be taken into account when surgery for spinal deformities in CP patients is planned, especially in patients with pre-existing gastrointestinal motility problems.

Epstein-Barr virus related lymphoma in inflammatory bowel disease.

Epstein-Barr virus (EBV) induced lymphoproliferative disease is a well-known, feared complication of EBV primo-infection in children treated with immunomodulators or immunosuppressive drugs, eg after transplantation. As the incidence of inflammatory bowel disease (IBD) in young children is rising, more young EBV naive patients are treated with immunomodulatory agents. It is not yet clear whether these patients carry the same risk as transplanted patients to develop lymphoproliferative disease and if so, whether their evolution is comparable. We present the history of a young patient with Crohn's disease who developed an EBV related lymphoma shortly after the primo-infection while being treated with azathioprine. This case argues for a rigorous follow up of young IBD patients treated with immune suppressive drugs, also regarding EBV status.

Implantation of the inflatable penile prosthesis AMS 700 CX.

The paper demonstrate the surgical approach used by the authors to implant the AMS 700CX penile prosthesis. Pre- and postoperative management are also discussed.

Primary IgG-lambda immunocytoma of the urinary bladder.

Primary malignant lymphoma of the urinary bladder is extremely rare. This report documents on a case of primary IgG lambda immunocytoma of the urinary bladder.

Recurrent hemolytic uremic syndrome and metastatic malignancy.

A 64-year-old patient with a prostatic adenocarcinoma presented two well-documented episodes of hemolytic-uremic syndrome (HUS) occurring 8 months apart and resolving without renal sequelae. The temporal relationship between these episodes and the natural progression of the underlying disease as well as the absence of chemotherapy favor the hypothesis of cancer-associated HUS. The clinical, laboratory and pathological findings of this patient and 3 additional patients reported in the literature are discussed. These cases suggest that malignancy should be suspected in adults developing the HUS and that this form of HUS need not have a poor prognosis despite progressive cancer.