Functional gastrointestinal disorders in Jordanian infants: a pilot study.

Introduction: Functional gastrointestinal disorders (FGIDs) encompass a wide spectrum of disorders that may be diagnosed using the Rome criteria. Aim: To identify the prevalence and risk factors for the development of FGIDs in Jordanian infants. Material and methods: We conducted a cross-sectional study to investigate the prevalence of FGIDs among infants and characterise any possible risk factors. Between 1 January 2020, and 30 December 2020, patients who presented to the paediatric follow-up clinic at King Abdullah University Hospital were recruited. Parents were interviewed and asked to complete an Arabic version of the Rome IV diagnostic questionnaire for pediatric gastrointestinal disorders for neonates and toddlers. Data regarding the parents' gastrointestinal symptoms and children's medical history were collected. Children's electronic medical files were also reviewed. Results: The study included 127 children, 78 (61%) were males. The median age was 40 days. According to the Rome IV criteria eighty-two (64%) of the infants fit the diagnosis for at least one disorder. The most prevalent disorder was functional constipation (n = 78, 95%) followed by infant dyschezia (n = 11, 13%). Compared to infants who did not meet the diagnostic criteria, herb intake and circumcision rates were significantly higher among those who did. Univariate analyses revealed that Infants with FGIDs were more likely to ingest herbs. Conclusions: FGIDs were common among young infants. Functional constipation was the most commonly diagnosed FGID. Infants with with FGIDs were more likely to intake herbs to ease the symtpoms.

Retrospective, single-center analysis of autoimmune hepatitis in Jordanian children: clinical features, treatments, and outcomes.

OBJECTIVES: This study describes clinical, biochemical, and histological features and long-term outcomes in pediatric patients diagnosed with autoimmune hepatitis (AIH) at King Abdullah University Hospital, Jordan. DESIGN: Retrospective, single-center study. SETTING: King Abdullah University Hospital, Jordan. PARTICIPANTS: Inclusion of all pediatric patients with AIH diagnosed at our hospital from 2015 to 2023. Exclusion criteria was patients aged over 18 at time of diagnosis and those diagnosed elsewhere. OUTCOME MEASURES: Understanding clinical, biochemical, and histological AIH features in children, evaluating treatment responses, and reporting short- and long-term complications, including mortality. RESULTS: Sixteen pediatric cases were diagnosed, with an average age of 9.84 ± 4.13 years. Females comprised 75% of patients, and 31.3% presented with acute liver failure. Jaundice was the most common symptom, and hepatosplenomegaly was observed in 18% of cases. Most patients had elevated transaminase levels, along with positive anti-smooth muscle antibody (ASMA) and antinuclear antibodies (ANA). Common hematological abnormalities included anemia (56.3%) and thrombocytopenia (37.5%). All patients underwent liver biopsy, with interface hepatitis present in 81.3% of cases. Treatment mainly involved prednisone and azathioprine. Three patients died, one discontinued therapy, two patients were lost to follow-up, and 10 remained on treatment. CONCLUSION: Autoimmune hepatitis affects Jordanian children, primarily female children. Jaundice is the most common presenting symptoms. Only Type I AIH occurred in our cohort. Although of good response to conventional treatment with steroids and immunosuppression, mortality reached 18.8%.

A Novel ANO1 Gene Variant is Associated with Intestinal Dysmotility Syndrome Masquerading as Hirschsprung Disease: A Case Report.

Anoctamin 1 (ANO1)-related intestinal dysmotility syndrome (OMIM: 620045) is an extremely rare disorder with only 2 cases reported in the medical literature. We present the clinical scenario of a 2-month-old male infant that presented to our center with diarrhea, vomiting, and abdominal distension. Routine investigations did not yield a clear diagnosis. Whole-exome sequencing showed a novel homozygous nonsense ANO1 pathogenic variant (c.1273G>T) with a protein alternation of p.Glu425Ter that fits the patient's phenotype. Sanger sequencing revealed the same ANO1 variant in both parents in a heterozygous form confirming an autosomal recessive mode of inheritance. The patient experienced multiple bouts of diarrhea-related metabolic acidosis, dehydration, and severe electrolyte imbalances that required intensive care unit monitoring. The patient was managed conservatively and being followed regularly in an outpatient setting.

Investigating the genetic profile of familial atypical cystic fibrosis patients (DeltaF508-CFTR) with neonatal biliary atresia.

Biliary atresia (BA) is a progressive inflammatory process of the biliary tree resulting in biliary obstruction. No single known genetic or environmental factor has been established to cause BA. Cystic fibrosis (CF) is a rare cause of neonatal cholestasis, and it has never been described in familial BA cases. Here, we investigate two siblings of first-degree consanguineous parents presenting with neonatal BA. Shortly after the Kasai operation, the proband developed severe respiratory symptoms attributable to a missed CF diagnosis. This was discovered after re-investigating the family history, which revealed a first-degree cousin with CF who did not manifest BA. Afterwards, we identified a pathogenic variant (DeltaF508) in CFTR in both BA-affected siblings along with their cousin. This intrigued us to study the molecular etiology behind the familial BA presentations, which exclusively contributed to BA-pathogenesis in BA-CF-affected siblings and not in their CF-only affected cousin. We applied a multistep approach to investigate the variant profile of both siblings' and their cousin's exomes. We curated the genes whose variants were shared by the BA-CF siblings but absent or heterozygous in their CF-only-affected cousin. Consequently, we identified three candidate genes (SNAPC4, UCK1, and ZHX2) besides CFTR. We propose that these genes act cumulatively or individually in inducing BA-pathogenesis-either by aggravating the biliary damage in the context of CF or increasing the susceptibility of BA as a separate CF-comorbidity. To our knowledge, this is the first report of DeltaF508 in CFTR with familial neonatal BA cases.

Eesophagogastroduodenoscopy in paediatrics: does abiding by the international guidelines lead to appropriate management? A cross-sectional study.

Objectives Esophagogastroduodenoscopy (EGD) is one of the most practiced procedures in paediatric gastroenterology. As with all other procedures, it is guided and controlled by specific guidelines developed and approved internationally. The European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) and the American Society for Gastrointestinal Endoscopy (ASGE) guidelines are two of the most followed guidelines in paediatric gastroenterology. This study aimed to determine how optimal patient condition management is when following international paediatric gastroenterology guidelines and to correlate the appropriateness of EGD and other variables with positive or negative findings on EGD. DESIGN: A cross-sectional retrospective cohort of all first-time diagnostic upper endoscopies was conducted between 1 January 2016 and 1 February 2020, in Prince Hamzah Hospital in Jordan. PARTICIPANTS: Paediatric patients between 9 months and 14 years of age with indications for EGD. RESULTS: Overall, 529 diagnostic EGDs were performed during the study period. Helicobacter pylori-associated gastritis was the most common final diagnosis in 247 patients (47%). Furthermore, 488 (92%) EGDs were deemed appropriate, while 41 (7.7%) were considered inappropriate. Finally, 74.0% of all biopsies performed had positive contributive findings. CONCLUSIONS: Abiding by international guidelines in paediatric gastroenterology can optimise care for paediatric patients. General paediatricians are urged to follow guidelines rigorously when referring patients to minimise inappropriate procedures.

National Consensus for the Management of Acute Gastroenteritis in Jordanian Children: Consensus Recommendations Endorsed by the Jordanian Paediatric Society.

Diarrhoeal diseases are one of the leading worldwide preventable causes of death among children under 5 years of age. Almost half of children do not receive optimal acute gastroenteritis (AGE) treatment in Jordan. With neither regional nor local guidelines available for AGE, consensus recommendations on the management of paediatric AGE in Jordan were developed by a panel of senior paediatricians and paediatric gastroenterologists and are endorsed by the Jordanian Paediatric Society. Recommendations are based on international guidelines and available relevant literature in relation to the AGE landscape and the healthcare system in Jordan. The prevention of diarrhoeal diseases should focus on the improvement of nutrition, hygiene, and sanitation, the introduction of routine vaccination against rotavirus, and the adoption of a standardised approach for AGE management (oral rehydration solution (ORS) use±adjunct therapies, continued feeding, and avoiding routine antibiotic use). Ondansetron, diosmectite, racecadotril, probiotics, and zinc can be considered adjunct to ORS, if needed. Local data gaps should be addressed. The clinical algorithm for the management of paediatric AGE could promote adherence to practice recommendations and by extension improve health outcomes in children.

Clinico-pathological characteristics of eosinophilic esophagitis in Jordanian children.

Introduction: Eosinophilic esophagitis (EoE) is a chronic, immune-mediated disorder manifested by symptoms of impaired esophageal function and hypereosinophilic esophageal inflammation. It is believed that the number of patients being diagnosed globally is increasing. Aim: To describe the frequency and clinicopathological features of EoE in Jordanian children. Material and methods: A retrospective review of all paediatric patients with eosinophilic esophagitis diagnosed and followed up at our paediatric gastroenterology service at King Abdullah University Hospital between January 2015 and January 2020. Results: During the study period, 21 patients were diagnosed with EoE out of 700 diagnostic endoscopic procedures. Only 1 (4.8%) female was diagnosed. The average age at presentation was 9.5 years (age range: 1-16 years). The most common manifestation was solid food dysphagia (15, 71.4%), followed by food impaction and vomiting (11, 52.4% and 6, 28.6%, respectively). Atopy was diagnosed in 10 (47.6%) patients. Four (19.0%) had food allergy, 3 (14.3%) had respiratory allergy, and 3 (14.3%) had combined. Linear furrows and circular rings were the most common endoscopic features - 17 (81.0%) and 10 (47.6%), respectively, while papillary elongation, basal zone hyperplasia, and eosinophilic infiltrate were the most common reported histopathological features. Almost all patients received proton pump inhibitors (19, 90.5%). Steroids were used in 18 (85.7%) patients; local steroids in 11 (52.4%), and oral steroids in 7 (33.3%). Out of the 4 (19%) patients with esophageal strictures, 2 (9.5%) required pneumatic dilatation. Conclusions: Eosinophilic esophagitis is not uncommon in our community. Clinical and histological parameters point to delayed referral and diagnosis. Increasing awareness of this problem will lead to early diagnosis and will decrease complications.

Acute Pancreatitis in Jordanian Children: A Single Center Experience.

Background: There is still much to understand and discover regarding pediatric pancreatitis. The etiology, clinical presentation, and prognosis of pancreatitis differs considerably between young children and adults. The incidence of pancreatitis has been increasing; it is no longer as rare in children as previously thought and could cause significant morbidity and mortality when severe. Methods: In this retrospective study conducted at a tertiary care hospital in Jordan, we present a cohort of children with 64 episodes of acute pancreatitis. Results: While abdominal pain was the most common presenting complaint in our cohort (97%), the classical features of radiation to the back and relief by the forward-lean position were observed in only one-third of our patients. Compared to serum amylase, serum lipase had a higher sensitivity for detecting pancreatitis (98 vs. 67%). Abdominal ultrasound is a non-invasive, widely available imaging modality; when performed, it revealed an enlarged pancreas in almost 60% of the patients. However, abdominal ultrasonography is often limited by the presence of excessive bowel gas. Anatomical abnormalities were the most common etiologies of pancreatitis (29%), followed by idiopathic pancreatitis (21%), and biliary causes (21%). Conclusion: In our cohort, serum lipase was a better diagnostic tool compared to serum amylase. Congenital biliary-pancreatic abnormalities were the most common causes of acute pancreatitis in our cohort. Almost half of these patients developed recurrent acute pancreatitis. The prevalence of pancreatic pseudocysts was 16.7%, and nearly half of them required an intervention.

Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of multisystemic abnormalities. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with a multifactorial etiology influenced by variants in NOD2. Here, we investigated a patient with plausible multisystemic overlapping manifestations of both NPC and CD. Her initial hospitalization was due to a prolonged fever and non-bloody diarrhea. A few months later, she presented with recurrent skin tags and anal fissures. Later, her neurological and pulmonary systems progressively deteriorated, leading to her death at the age of three and a half years. Differential diagnosis of her disease encompassed a battery of clinical testing and genetic investigations. The patient's clinical diagnosis was inconclusive. Specifically, the histopathological findings were directed towards an IBD disease. Nevertheless, the diagnosis of IBD was not consistent with the patient's subsequent neurological and pulmonary deterioration. Consequently, we utilized a genetic analysis approach to guide the diagnosis of this vague condition. Our phenotype-genotype association attempts led to the identification of candidate disease-causing variants in both NOD2 and NPC1. In this study, we propose a potential composite digenic impact of these two genes as the underlying molecular etiology. This work lays the foundation for future functional and mechanistic studies to unravel the digenic role of NOD2 and NPC1.

Successful management of dural venous sinus thrombosis secondary to ulcerative colitis in a pediatric patient: A case report.

Cerebral venous sinus thrombosis secondary to inflammatory bowel disease is a clinically rare and challenging entity with serious sequela. We preset a case of a 15-year-old female patient who was recently diagnosed with ulcerative colitis and had been suffering from headache for 4 days duration. During the diagnostic workup, computed tomography (CT) venography revealed Dural venous sinus thrombosis in the left transverse sinus extending into the left sigmoid sinus and the upper third of the left internal jugular vein as well as into the sinus confluence with non-occlusive filling defects in the superior sagittal sinus. Anticoagulant therapy with enoxaparin was initiated and the patient is being monitored in an outpatient setting regularly. Post-discharge disease course was uneventful. CT venography performed after 3 months illustrated partial recanalization of both left transverse and sigmoid sinuses. CVST is a rare extraintestinal manifestation of ulcerative colitis with significant morbidity and mortality which requires a high level of suspicion to establish a clear diagnosis. In spite the fact that CVST is rare, it should be ruled out in inflammatory bowel disease patients with new onset seizures, headache, along with focal, and non-focal neurologic symptoms.

Blessing in disguise: when head trauma solves the riddle of carbonic anhydrase II deficiency.

Carbonic anhydrase II deficiency is a rare autosomal recessive disorder with a classical triad of renal tubular acidosis, intracerebral calcifications and osteopetrosis. We present a case of a 6-year and 4-months old male patient presented to our pediatric gastroenterology outpatients' clinic with parental concern of poor growth. The patient is a known case of unexplained global developmental delay, recurrent fractures and constipation since birth. As a result of the patient's hyperactivity, he hit his head with the clinic's door resulting in a cut wound. Brain computed tomography scan showed abnormal symmetrical calcifications seen in both basal ganglia, thalami and subcortical white matter associated with increased bone density of the skull and upper cervical spine reassembling osteopetrosis. The suspicion of carbonic anhydrase II deficiency was confirmed by arterial blood gases revealing a marked metabolic acidosis fulfilling the diagnostic triad. The patient was discharged on sodium bicarbonate therapy, lactulose and vitamin D3 supplements and has been followed up regularly.

Diagnostic yield and appropriate indication of upper endoscopy in Jordanian children.

BACKGROUND: Upper endoscopy is an essential tool for diagnosing pediatric gastrointestinal issues. This study aimed to assess the indications, diagnostic yields, concordance between histopathological and endoscopic findings and suitability of upper endoscopies performed at a tertiary university hospital in Jordan. METHODS: Hospital records of children who underwent upper endoscopy were retrospectively reviewed. Demographics, endoscopic details (e.g., indications, findings and any complications), and histopathological findings were collected. The relationship between endoscopic findings and histopathological abnormalities was reported. RESULTS: The study included 778 patients (age, 92.5 ± 54.5 months; 380 girls, 48.8%). The most common age group was children younger than 60 months (273 patients, 34.3%). The most common indication for endoscopy was abdominal pain, followed by vomiting and failure to thrive or weight loss. Normal upper endoscopy was reported in 411 patients (52.8%). Age below 60 months, abdominal pain, dysphagia/odynophagia, and heartburn were predictive of abnormal endoscopy in multivariate analysis with p-value 0.000, 0.048, 0.001 and 0.01 respectively. Abnormal endoscopy showed 67.3% sensitivity and 69.9% specificity to predict histopathological abnormalities. Of those performed, 13.6% endoscopies were described as inappropriate indication. The suitability of the procedure was a sensitive predictor for abnormal endoscopic and histopathological findings. CONCLUSIONS: Abdominal pain is the most common indication for upper endoscopy in our population. It is associated with a higher chance of abnormal endoscopy. Concordance between endoscopic and histopathological findings is not high. Normal endoscopic findings shouldn`t discourage the endoscopist from obtaining tissue biopsies. Considering more biopsies may improve pathological detection rates. Compliance with established endoscopy guidelines may reduce unnecessary procedures.

Inguinal hernia repair among Jordanian infants; A cohort study from a university based tertiary center.

BACKGROUND: Inguinal hernia is the most common surgical procedure performed in infants. Still, there is major debate about the optimal timing of performing this procedure. The goal of this review is to determine the incidence of inguinal hernia among our infant population in Jordan, review the current practice regarding the timing of repair, and identify the risk of incarceration and postoperative apnea. METHODS: A retrospective cohort study of chart review of infants admitted with inguinal hernia in the period 2012-2016. Data collected about demographics, timing of diagnosis, timing of repair, exploration of contralateral side, incarceration, and postoperative apnea. RESULTS: A total of 272 infants were diagnosed with inguinal hernia. The overall incidence was 1.9%, compared with 11% among premature babies <32-week gestation. Half were term, and 23% less than 32-week gestation. Male to female ratio was 5 : 1. Of the 172 babies admitted to the neonatal ICU, only 19 cases (11%) were diagnosed during their NICU stay, and one case got repaired emergently. All cases were repaired by open herniorrhaphy. The median postconceptional age at time of repair was 49 weeks (IQR 45-55), and the median interval between diagnosis and repair was 8 days (IQR 1-17). Incarceration affected 9% and the main risk factor was >7-day delay in repair. Only one case developed apnea and required intubation postoperatively. CONCLUSIONS: Our approach of elective inguinal hernia repair seems to be safe without increasing risk of complications like incarceration or postoperative apnea if performed within seven days following diagnosis.

Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.

PURPOSE: Four consanguineous Jordanian families with affected members of unknown gastrointestinal related diseases were recruited to assess the utility and efficiency of whole exome sequencing (WES) in reaching the definitive diagnosis. PATIENTS AND METHODS: Members from four consanguineous Jordanian families were recruited in this study. Laboratory and imaging tests were used for initial diagnosis, followed by performing WES to test all affected members for the detection of causative variants. Sanger sequencing was used for validation. RESULTS: We had a 100% success rate identifying each case presented in this study. CONCLUSION: This is the first study applying a WES testing approach in the diagnosis of pediatric diseases in Jordan. Our results strongly suggest the need to implement WES as an evident diagnostic tool in the clinical setting, as it will subsequently allow for proper disease management and genetic counseling.

Educational Intervention Improved Parental Knowledge, Attitudes, and Practices (KAP) and Adherence of Patients with Celiac Disease to Gluten-Free Diet.

BACKGROUND: Raising the knowledge level though education for a celiac disease patient's parents could improve the parent's adherence and practice and consequently recover the patient's adherence and symptoms and increase the patient's compliance. AIM: The present study was aimed at assessing the knowledge, attitudes, and practices (KAP) of parents who have children with celiac disease aged from 2 to 15 years old and the change in self-reported patient's adherence pre-/posteducational intervention. METHOD: This intervention study was designed as a quasiexperiment with evaluation pre-/post intervention analyses. Two educational sessions were carried for the parents of CD patients. A reliable and valid questionnaire was used to assess all independent variables pre-/post intervention. The parents were asked to complete the questionnaire pre and post the education sessions. The time between the sessions was two weeks. RESULTS: 100 parents were recruited, and 40 parents participated and completed the study. Baseline parent's knowledge was significantly associated with the source of information (p value = 0.02), while the patient's adherence was associated with the onset of disease (p value = 0.04). There were significant differences in the parent's KAP and patient's adherence between pre- and posteducational intervention (p value was ≤0.001, for all variables). CONCLUSION: Based on the results, this study suggested that the educational intervention increased the parent's KAP and improved the patient's adherence to the gluten-free diet significantly, which may lead to improvement in the celiac disease patients' health outcomes.

National Prevalence of Functional Gastrointestinal Disorders in Jordanian Children.

INTRODUCTION: Functional gastrointestinal disorders are common in children. After the introduction of Rome criteria for diagnosis, assessment of prevalence of such disorders became an attainable goal. Since data from our part of the world are scarce, this study aimed at estimating the prevalence of functional gastrointestinal disorders in Jordanian children. PATIENTS AND METHODS: In a school-based cross-sectional study, recruited children between the age of 4 and 18 were asked to fill the Arabic version of the Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III Version (QPGS-RIII). Patients were identified based on meeting the ROME III criteria. RESULTS: Of 2000 children that were recruited, 1587 (79.4%) returned completed questionnaires. Males accounted for 841 (53%) of participants. Mean age was 10.2 years (range, 4 to 18 years). A total of 815 (51.4%) of participants were younger group (4 to 10 years of age), mean ± SD age of the two age groups was 8.1 ± 1.4 and 14.0 ± 1.8 years, respectively. Overall, 514 (32.4%) children met the criteria for having at least one FGID. The most common FGIDs in Jordanian children were functional constipation, followed by Aerophagia, abdominal migraine, and irritable bowel syndrome (prevalence estimates of 16.0%, 7.0%, 5.1%, and 3.6%, respectively). FGIDs were more common in younger girls and older boys but were not statistically significant. Concomitant presence of more than one FGID was observed in almost 15% and 22% of younger and older age groups, respectively. CONCLUSION: Functional gastrointestinal disorders (FGIDs) are common in Jordanian school children. Functional constipation is the most common disorder. Further studies investigating the predisposing factors in our population are needed.

Declining prevalence of Helicobacter pylori infection in Jordanian children, report from developing country.

INTRODUCTION: Helicobacter pylori (H. pylori) is a Gram-negative bacteria that is harbored in the stomach and linked to chronic gastritis, peptic ulcer disease, and gastric malignancy. Most Helicobacter infections are acquired during early infancy. This study aimed to establish the prevalence of H. pylori infection in Jordanian children using the 13C-urea breath test. MATERIALS AND METHODS: We prospectively enrolled children between the ages of 4 and 17 years from April 2019 to July 2019. Enrolled children were patients with nongastrointestinal complaints at the pediatric clinics of two hospitals and at community centers caring for healthy children in Irbid, Jordan. Questionnaires obtaining data on sociodemographics, clinical symptomatology, and hygienic risk factors were completed. Recruited children underwent a urea breath test (UBT). RESULTS: Of 340 children who were recruited, 328 (96.5%) were included in the final analysis. The mean age (±standard deviation) was 9.56 (±3.98) years (range, 4.0-17 years), and 168 (51.2%) were males. Only 48 children (14.6%) tested positive. There were no gender differences. Living in an urban area and a family history of previous H. pylori infection were risk factors for the acquisition of infection (P = 0.007 and 0.001, respectively). Although gastrointestinal symptoms were more common in H. pylori-infected children, only hiccups and constipation were statistically significant (P = 0.035 and 0.038, respectively). CONCLUSION: H. pylori infects at least 15% of Jordanian children, suggesting a significant drop in infection rates in this group. Larger-scale studies combined with clinical evaluations will be important for further understanding the reasons for the observed decrease in H. pylori infections in Jordanian children.

Enteric anendocrinosis attributable to a novel Neurogenin-3 variant.

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with recessively inherited variants in Neurogenin-3 (NEUROG3) gene. Here we investigate a case of a male infant who presented with mysterious severe malabsorptive diarrhea since birth. Thorough clinical assessments and laboratory tests were successful to exclude the majority of differential diagnosis categories. However, the patient's diagnosis was not established until the genetic test using whole-exome sequencing (WES) was performed. We identified a novel homozygous missense disease-causing variant (DCV) in NEUROG3 (c.413C>G, p.Thr138Arg). Moreover, molecular dynamic simulation analysis showed that (p.Thr138Arg) led to a global change of the NEUROG3 orientation affecting its DNA binding capacity. To the best of our knowledge, this is the first time to apply WES to reach a differential diagnosis of patients with CODEs. Our study not only expands our knowledge about NEUROG3 variants and their clinical consequences but also proves that WES is a very effective tool for the diagnosis of CODEs. This might be of value in early diagnosis of diseases and prenatal CODEs detection.

Endoscopic management of foreign body ingestion in children.

INTRODUCTION: Foreign body ingestion is common in children. Most accidental ingestions are passed spontaneously without intervention. Some cases of ingestion require intervention in a timely fashion to reduce risks and morbidities. AIM: To analyse the clinical presentation, aetiology, and outcome of children presenting with foreign body ingestion, who required endoscopic intervention at a tertiary hospital (King Abdullah University Hospital, Irbid, Jordan). MATERIAL AND METHODS: Records of all patients with ingested foreign bodies requiring endoscopic retrieval over a 3-year period were reviewed retrospectively. Data on age, sex, type of ingested foreign body, presentation, type of intervention, stuck and retrieval location, outcome, and complications were collected. RESULTS: Of the sixty-three patients identified, 32 (50.8%) were male. Mean patient age was 7.7 ±3.4 years (range: 1 month-17.4 years). Most patients (74.6%) presented asymptomatically after the family or the child reported ingestion. Coins were the most commonly retrieved foreign bodies (37, 58.7%). The oesophagus was the most common site of retrieval (45, 71%). A rat tooth forceps was most commonly used to retrieve coins, followed by a net basket. Endoscopy was effective in managing the foreign body in 57 (90.5%) cases. Surgery was needed in 1 (1.6%) patient, a 1-month-old infant with a plastic tube in his stomach. All patients tolerated the procedure well with no complications. Interestingly, 7 (11.1%) male patients showed endoscopic features of eosinophilic oesophagitis; eosinophilic oesophagitis was confirmed histopathologically in three of them. CONCLUSIONS: Endoscopic intervention is effective and well tolerated in the management of ingested foreign bodies in the upper gastrointestinal system. Parents and children should be cautioned against playing with coins, to reduce the incidence of foreign body ingestion.