Prevalence of functional gastrointestinal disorders in Saudi infants and toddlers: A cross-sectional multicenter study.

BACKGROUND: Functional gastrointestinal disorders (FGIDs) are common pediatric problems, but their prevalence in Saudi Arabia is unknown. We aimed to assess the prevalence of FGIDs and risk factors among children in six regions of Saudi Arabia. METHODS: This was a cross-sectional multicenter study enrolling children aged 0-48 months, attending pediatric clinics. Questionnaires evaluated the clinical history, symptoms, and sociodemographic information. FGIDs were defined according to Rome IV criteria. RESULTS: The study involved 1011 infants and toddlers (mean [standard deviation (SD)] aged, 21.7 [19.4] months; FGIDs and mean [SD] age 17.4 [16.4] months; controls). FGIDs were diagnosed in 483 (47.7%) of all infants and toddlers. The prevalence of FGIDs was significantly higher in children aged 0-12 months than in those aged 13-48 months ( P < 0.001). The most common disorders were functional regurgitation (13.8%) in infants and functional constipation (9.6%) in toddlers. Univariate regression analysis confirmed that the rate of FGIDs was higher in term gestational age infants (odds ratio (OR) 2.7; 95% confidence interval (CI), 1.76-4.17, P < 0.001), in partial breastfeeding (OR 0.58; 95% CI, 0.40-0.84, P = 0.003), in formula feeding (OR 2.25; 95% CI, 1.51-3.35, P < 0.001), and in subjects with no history of food allergy (OR 2.40; 95% CI, 1.58-3.64, P < 0.001). CONCLUSION: FGIDs are common in Saudi infants and toddlers (47.7%). Regurgitation is most prevalent in infants, and functional constipation is most common in toddlers. Term gestational age infant, partial breastfeeding, formula feeding, and subjects with no history of food allergy are associated with the prevalence of FGIDs.

Early-Life Gut Health Indicators and Reported Prevalence of Infant Functional Constipation by Healthcare Professionals.

A healthy gut during early childhood is important. However, it seems that there are no standard indicators used to assess it. Healthcare professionals (HCPs) were asked via an electronic survey question about gut health indicators (GHIs) for infants and toddlers, in addition to an estimated prevalence of infant's functional constipation (FC) and its management. HCPs from eight countries participated in the survey (Russia (66.0%, 1449), Indonesia (11.0%, 242), Malaysia (6.0%, 132), Mexico (5.7%, 125), KSA (5.1%, 113), Turkey (3.0%, 66), Hong Kong (2.2%, 49), and Singapore (1.0%, 23)). The 2199 participating respondents were further classified into three continents (Asia (20.2%), Europe (68.8%), and others (11.0%)). Most of them were pediatricians (80.3%), followed by pediatric gastroenterologists (7.0%), general practitioners (6.4%), and others (6.3%). The top three preferred GHIs were similar for infants and toddlers: an absence of gastrointestinal (GI) symptoms, effective digestion/absorption as assessed by normal growth, and a general feeling of well-being. The absence of GI-related infection was the least preferred indicator. Most of the respondents reported the prevalence of FC among infants was less than 5%, with the peak incidence between the ages of 3 and 6 months. The reported choices of intervention to manage FC in infants were a change to a specific nutritional solution from a standard formula (40.2%), parental reassurance (31.7%), and lactulose (17.0%). Conclusion: The HCPs in the eight countries preferred the absence of GI symptoms, normal growth for effective digestion and absorption, and general well-being as the gut health indicators in infants and toddlers. The reported prevalence of FC in infants was less than 5%.

Reported Prevalence and Nutritional Management of Functional Constipation among Young Children from Healthcare Professionals in Eight Countries across Asia, Europe and Latin America.

Background: The prevalence of functional constipation (FC) among children varies widely. A survey among healthcare professionals (HCPs) was conducted to better understand the HCP-reported prevalence and (nutritional) management of FC in children 12−36 months old. Methods: An anonymous e-survey using SurveyMonkey was disseminated via emails or WhatsApp among HCPs in eight countries/regions. Results: Data from 2199 respondents were analyzed. The majority of the respondents (65.9%) were from Russia, followed by other countries (Indonesia (11.0%), Malaysia (6.0%)), Mexico, KSA (5.1% (5.7%), Turkey (3.0%), Hong Kong (2.2%), Singapore (1.1%)). In total, 80% of the respondents (n = 1759) were pediatricians. The prevalence of FC in toddlers was reported at less than 5% by 43% of the respondents. Overall, 40% of the respondents reported using ROME IV criteria in > 70% of the cases to diagnose FC, while 11% never uses Rome IV. History of painful defecation and defecations < 2 x/week are the two most important criteria for diagnosing FC. In total, 33% of the respondents reported changing the standard formula to a specific nutritional solution, accompanied by parental reassurance. Conclusion: The most reported prevalence of FC in toddlers in this survey was less than five percent. ROME IV criteria are frequently used for establishing the diagnosis. Nutritional management is preferred over pharmacological treatment in managing FC.

Knowledge and practice of pediatricians regarding childhood constipation in the Arab world: results from a multicenter survey.

OBJECTIVES: We aimed to evaluate knowledge and practice styles among medical providers with different professions and working in different Arab countries regarding their approach to childhood constipation. METHODS: We conducted a cross-sectional multinational survey in eight Arab countries. Pediatric care providers (PCPs), including pediatric specialists (PSs), pediatric residents (PRs), pediatric consultants (PCs), pediatric gastroenterologists (PGs), general practitioners (GPs), and pediatric surgeons (PSu), were included in our study. The survey was anonymous, and participants provided input on the definition and management of constipation. RESULTS: Of 4000 PCPs, 2579 completed the survey (response rate of 64.5%). Although the majority of respondents were aware of the Rome IV criteria to diagnose constipation, significant differences in the percentage of participants in different geographic countries regarding the definition of constipation were noted. Polyethylene glycol (PEG) was prescribed as a first-line treatment of fecal disimpaction significantly more frequently by pediatricians (PSs, PRs, PCs, PGs) than GPs and PSu (12.8% versus 7.2%, respectively; p < 0.001). Additionally, we found that pediatricians used special milk (high magnesium) as a first-choice formula significantly more often than other physicians (53.7% versus 37%, P < 0.001). For maintenance therapy, both pediatricians and nonpediatricians used dietary management with a special milk formula more than other treatment options (84.2% and 84%, respectively). CONCLUSIONS: Despite increased awareness of the Rome IV criteria, significant differences in knowledge and practice patterns regarding fecal disimpaction exist among PCPs from different Arab countries. The identification of these gaps may be helpful for policy-makers to produce targeted instructional resources on constipation for PCPs.

A Survey to Identify the Current Management of Cow's Milk Disorders and the Role of Goat Milk-Based Formulas in the Middle East and North Africa Region.

BACKGROUND: Cow's milk allergy (CMA) and cow's milk intolerance (CMI) are the major cow's milk disorders observed in infants and young children. This study investigates, for the first time, physician knowledge regarding CMA and CMI prevalence, diagnosis, and management in the Middle East and North Africa (MENA) region. In addition, we explore the role of goat milk-based formula as an alternative in infants suffering from CMI. METHOD: This cross-sectional survey was conducted from December 2020 to February 2021. A convenience sample of 2500 MENA-based physicians received the questionnaire, developed by a working group of pediatric experts. RESULTS: 1868 physicians completed the questionnaire, including pediatric specialists (80.8%), training physicians (0.2%), dermatologists (0.1%), family/general physicians (12.9%), neonatologists (3.6%), neurosurgeons (0.2%), allergy nurse specialists (0.3%), pharmacists (2.1%), and public health workers (0.1%). Differentiation between CMA and CMI was recognized by the majority of respondents (80.7%), for which the majority of respondents (35.4%) identified that the elimination and challenge test was the best test to differentiate CMA from CMI, whereas 30.7% and 5.4% preferred the immunoglobulin E (IgE) test and skin prick test, respectively. In addition, 28.5% of respondents reported that there is no confirmatory test to differentiate CMA from CMI. The majority of respondents (47.3%) reported that amino acid-based formula (AAF)/ extensively hydrolyzed formula (EHF) is the cornerstone for the management of CMA. However, most respondents (33.7%) reported that lactose avoidance was best for the management of CMI. Overall, 65% of the respondents were aware of nutritionally adapted goat's milk formula as an alternative to cow's milk products and 37% would recommend its routine use in infants (≤2 years of age). CONCLUSION: The results of this survey demonstrate that the majority of physicians are aware of the underlying pathophysiology and management of CMA and CMI. However, a significant proportion of physicians do not follow the clinical guidelines concerning CMA/CMI diagnosis and management. Notably, this survey identified that goat's milk formulas may offer a suitable alternative to AAF/EHF in infants with CMI as they contain ß-casein protein which is easily digestible. In addition, goat's milk formulas contain higher levels of oligosaccharides and medium-chained fatty acids compared with standard cow's milk formulas, yet further clinical trials are warranted to support the inclusion of goat's milk formulas in clinical guidelines.

Risk Factors for Recurrence of Peptic Ulcer Disease: A Retrospective Study in Tertiary Care Referral Center.

Backgrounds Peptic ulcer disease (PUD) is a common gastrointestinal tract disease characterized by mucosal damage secondary to pepsin and gastric acid secretion. This study evaluated the five-year recurrence rate for patients with PUD and risk factors contributing to PUD relapses. Methods From 2016 through 2021, all patients with endoscopy-proved PUD were identified by reviewing medical records (Best-Care system). Possible risk factors including smoking, nonsteroidal anti-inflammatory drugs (NSAIDs), aspirin, alcohol, caffeine, and steroids were analyzed by multivariate analysis. Treatment outcomes, 5-year recurrence rate, and mortality rate were assessed. Results Among 223 patients, there were 187 (83.8%) diagnosed with endoscopy-proved PUD and 36 (16.2%) diagnosed with clinical PUD. Among them, 126 (56.5%) patients were males, and the mean age was 62±2 years. The five years recurrence rate of PUD was 30.9%. There was no significant difference in the recurrence rate between the duodenal ulcer (33.3%) and the gastric ulcer (28.8%). By univariate analysis, the use of steroids and NSAID and Helicobacter pylori (H. pylori) infection were potential risk factors for PUD (P < 0.005). The common complication of PUD was gastrointestinal bleeding (34.1%). Patients who had a complicated PUD were associated with a higher rate of recurrence (45.9%) compared to the uncomplicated PUD (19.2%) (P > 0.05). Conclusion Our findings demonstrated that the five years recurrence rate of PUD was 30.9%. The use of steroids and NSAID and H. pylori infection were risk factors for recurrence of PUD. PUD places a significant burden on health care systems. Therefore, a multicenter prospective study is needed for effective management to prevent recurrence and complications of PUD.

Environmental Risk Factors for Childhood Inflammatory Bowel Diseases: A Multicenter Case-Control Study.

Objective: Multiple environmental factors can be linked to the development of inflammatory bowel disease (IBD).With an increase in the cases of IBD, the objective of this research is to investigate environmental risk factors for IBD in the Saudi population. Methods: A retrospective multicenter case−control study was performed among IBD children from 2009 to 2021.The variables analyzed to be the possible risk factors included their socioeconomic status, living and demographic characteristics, and lifestyle related to IBD. The questionnaire included a list of IBD risk factors that was given to the control and the patient group. For every variable, the 95% confidence interval (CI) and odds rations were also estimated. Results: There were 335 individuals considered in this study: 168 controls (50.1%) and 167 IBD patients (49.9%). Of these, 93 IBD patients (56%) had CD and 74 patients (44%) had UC. Most of participants were female (72.1%) and were aged above 10 years (51.5%). Vaginal delivery (OR 0.551, 95% CI: 1.59−4.14), age above 10 years (OR 1.040, 95% CI: 1.012−1.069), deficient fruit intake (OR 2.572, 95% CI: 1.59−4.14), no exposure to antibiotics (OR 2.396, 95% CI: 1.51−3.81), appendectomy (OR 2.098, 95% CI: 1.87−2.35), less physical activity (OR 2.033, 95% CI: 1.05−3.93) and gastroenteritis admissions > 2 times/year (OR 0.107, 95% CI: 0.037−0.311) were the risk factors for IBD. These factors depicted a more significant link with CD than UC (p < 0.05). Interestingly, sleep disturbance was estimated to be a CD risk factor (adjusted OR: 3.291, 95% CI = 0.97−11.22). Pets in house was risk factor for UC (p < 0.001). Conclusions: This study highlights association between vaginal delivery, age above 10 years, deficient fruit intake, low physical activity, exposure to antibiotics, appendectomy, and frequent gastroenteritis admissions as risk factors for IBD. Knowledge of these risk factors can help pediatricians to prospectively identify patients at risk of environmental exposure.

Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.

BACKGROUND: Of the many types of mitochondrial diseases, mutations affecting BCS1L gene are regarded as chief cause of the defective mitochondrial complex-III, affecting normal mitochondrial functioning, and leading to wide variety of phenotypes. CASE PRESENTATION: In this case report we describe a novel genotype linked to a unique phenotype in a Saudi patient born of a consanguineous marriage. Detailed genetic analysis and whole genome sequencing identified a novel homozygous missense mutation in exon 5 c.712A > G (p.Ser328Gly) of the BCS1L gene, with predicted deleterious effects on the functioning AAA+-ATPase domain of the protein characterized by distinct clinical presentation associated with profound multisystem involvement, conductive hearing loss, absent external auditory canal, low posterior hair line, short neck, micro and retrognathia, over riding fingers, rocker bottom foot, small phallus with bilateral absent testis (empty scrotum) and intolerable lactic acidosis. CONCLUSIONS: A pathogenic effect of this novel BCS1L mutation was reflected in the patient with his failure to thrive and a complex clinical and metabolic phenotype.

Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.

Background: Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due to the small number of reported cases. Methods: Thirty patients diagnosed with THES, all molecularly confirmed by whole exome sequencing (WES) to have biallelic variants in TTC37 or SKIV2L, were included in the study. Clinical, biochemical, and nutritional phenotypes and outcome data were collected from all participants. Results: The median age of THES patients was 3.7 years (0.9-23 years). Diarrhea and malnutrition were the most common clinical features (100%). Other common features included hair abnormalities (96%), skin hyperpigmentation (87%), facial dysmorphic abnormalities (73%), psychomotor retardation (57%), and hepatic abnormalities (30%). Twenty-five patients required parenteral nutrition (83%) with a mean duration of 13.34 months, and nearly half were eventually weaned off. Parenteral nutrition was associated with a poor prognosis. The vast majority of cases (89.6%) had biallelic variants in SKIV2L, with biallelic variants in TTC37 accounting for the remaining cases. A total of seven variants were identified in TTC37 (n = 3) and SKIV2L (n = 4). The underlying genotype influenced some phenotypic aspects, especially liver involvement, which was more common in TTC37-related THES. Conclusion: Our data helps define the natural history of THES and provide clinical management guidelines.

Pediatric Inflammatory Bowel Disease Associated With Celiac Disease: A Retrospective Study in a Tertiary Care Hospital in Saudi Arabia.

Background. Inflammatory bowel disease (IBD), which includes ulcerative colitis (UC) and Crohn's disease (CD), is a chronic relapsing disease indicated by inflammation of the gastrointestinal tract. Celiac disease (CeD) is a chronic autoimmune disease of the small bowel. The prevalence of CeD in IBD patients is unknown. Some studies have described the coexistence of the 2 diseases in the same patient. This study aimed to investigate the prevalence of CeD in Saudi Arabian children with IBD. Methods. We used a retrospective study design because data can be collected immediately and is easier to analyze afterward. The study was conducted on IBD patients in the Pediatric Gastroenterology Department at National Guard Hospital, Jeddah, Saudi Arabia. We enrolled Saudi patients aged between 1 and 18 years who had been diagnosed with IBD and CeD based on positive biochemical serology and histology from January 2011 to January 2020. We excluded patients with immunodeficiency disorders. Results. Among the 46 enrolled patients with IBD, CeD was identified in 4, and they did not develop any relapses. We discovered that the weight at IBD diagnosis improved significantly compared to current weight (P-value < .0001). We also discovered that the height at diagnosis of IBD improved significantly compared to the current height (P-value < .0001). Additionally, we found no significant associations between UC and CeD (P-value = 1), or CD and CeD (P-value = .625). Conclusion. No significant associations were evident between the prevalence of CeD and IBD. More prospective multicenter studies are needed to clarify the prevalence of CeD in children with IBD.

Clinical Characteristics of Newborn Infants Delivered to Pregnant Women With Laboratory-Confirmed COVID-19: A Single-Center Experience From Saudi Arabia.

Introduction In Saudi Arabia and countries around the world, clinical health practice has been transformed by the coronavirus 2019 (COVID-19) pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). During the early days of the pandemic, it was a major challenge to care for pregnant women with laboratory-confirmed COVID-19 and their newborn infants. In this article, we share our experience in the management of newborn infants delivered to mothers with laboratory-confirmed COVID-19. Methods A prospective single-center observational study was conducted at King Abdulaziz Medical City in Jeddah, National Guard Health Affairs, Saudi Arabia. Data collection started in March 2020 and was completed in October 2020. The inclusion criteria included mothers with laboratory-confirmed COVID-19 and their newborn infants. Results A total of 45 pregnant women with polymerase chain reaction (PCR)-confirmed COVID-19 were included in the study. Their mean age was 30.23±5.92 years. The mode of delivery was spontaneous vaginal delivery in 27 women (60%), cesarean section in 15 women (33.3%), and assisted vaginal delivery in three women (6.7%). Three mothers (6.7%) required intensive care unit admission. A total of 45 babies were born and 25 were females (55.6%), 20 males (44.4%). None of the babies had specific symptoms related to COVID-19. All babies were tested negative on the two COVID-19 nasopharyngeal swabs. Babies were initially admitted to the NICU and one baby required prolonged NICU stay due to extreme prematurity (23 weeks), one baby died due to hypoxic-ischemic encephalopathy and respiratory distress syndrome, and the remaining babies were discharged home in a stable condition. Conclusion Our experience suggests that maternal outcomes are generally favorable and no difference between vaginal and cesarean delivery in the risk of virus transmission. With strict implementation of infection prevention measures, mother-to-infant transmission is very unlikely. Early bathing of the newborn infant is preferred to reduce the risk of transmission of infection to newborn infants and the hospital staff. Breastfeeding is safe if performed under strict infection prevention measures.

Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant.

While only a few hundred cases have been reported in pediatrics, congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder that is characterized by intractable diarrhea and severe dehydration, which can be life-threatening if not treated appropriately. Due to the rarity of the disease, it is challenging to consider GGM as an initial diagnosis for most clinicians. We report the clinical and diagnostic course of a seven-month-old Saudi infant who presented with severe recurrent episodes of watery diarrhea and failure to thrive in early infancy despite standard treatment. Molecular testing identified that our patient had a compound heterozygous variant in SLC5A1. Fructose-based formulae have been proven to be effective in treating GGM. This case highlights the importance of early diagnosis and timely management to prevent serious complications of undiagnosed GGM.

Chronic Refractory Constipation in Children: Think Beyond Stools.

Chronic refractory constipation (CRC) is defined as children who are unable to pass stools in spite of being on maximum laxative therapy and require daily rectal stimulation in the form of enemas or suppositories to pass stools for >3 months. Children are often referred for treatment of refractory constipation that may result from uncontrolled underlying disease or ineffective treatment. Constipated children can be managed by a variety of medical therapeutic options that yield satisfying results in most cases. However, a subset of constipated children fails to benefit from conventional treatments. On treatment failure or on suspicion of organic disease the patient should be referred for further evaluation. Treatment options for treatment-resistant patients are presented. Pharmalogical and non-pharmalogical treatment modalities are reviewed and an algorithm for refractory constipation in children are presented.

Knowledge and Practice of Pediatric Providers Regarding Neonatal Cholestasis in the Western Region of Saudi Arabia.

BACKGROUND: Early detection of neonatal cholestasis (NC) is important for better clinical outcomes but can be challenging. OBJECTIVE: The objective of this study was to evaluate the knowledge and practice styles of pediatric providers (PPs) regarding NC in the western region of Saudi Arabia. METHODS: This cross-sectional, questionnaire study was conducted between November 2019 and February 2020 in three major cities of the western region of Saudi Arabia (namely, Taif, Makkah and Jeddah). PPs included pediatric residents, pediatric specialists, pediatric consultants and family physicians. The questionnaire included 15 items in five subscales (definition, causes, diagnosis and management of NC and knowledge of guidelines). RESULTS: A total of 488 participants completed the questionnaire. Only 30.2% were aware of the correct definition of NC (P < 0.001). Two-thirds of the respondents did not consider a history of pale stool being important for evaluating NC. The importance of biliary atresia as a serious cause of NC was found to be significantly different between pediatric consultants and other pediatricians (P < 0.001). In cases of prolonged NC, 32.4% of the PPs refer to pediatric gastroenterologist. Only 18.9% of the respondents were aware of liver biopsy being the gold standard investigation of NC. The majority of the respondents (41.8%) used ursodeoxycholic acid as a supportive therapy of NC. CONCLUSIONS: This study found a significant deficit in the knowledge and practice styles of PPs in the western region of Saudi Arabia. These findings highlight the need for policymakers to develop educational materials for PPs to increase their knowledge of NC.

Knowledge, attitudes, and understanding of probiotics among pediatricians in different regions of Saudi Arabia.

BACKGROUND: Probiotics are live microorganisms that, when administered in adequate amounts, confer a health benefit upon the host. Knowledge and attitudes of health professionals have been reported to be at a medium level for probiotics. The objective was to evaluate the knowledge and practice styles about probiotics among pediatricians working in different regions of Saudi Arabia. METHODS: This cross-sectional study was conducted at pediatric hospitals in Saudi Arabia. A national survey of 550 pediatric providers (PPs) was conducted between January and March 2020 anonymously on their knowledge and practice styles regarding probiotics, and it was completed by pediatric residents (PRs), pediatric specialist (PSs), pediatric consultants (PCs), and pediatric gastroenterologists (PGs). RESULTS: The survey had a response rate of 82%. Among the respondents, 57.7% were aware of the probiotic's definition. There were significant differences in the percentage of participants who had little knowledge of probiotics (P < 0.05), with the highest being PRs and the lowest being PGs. The most common probiotic used by all participants was Lactobacillus acidophilus (63.3%), and Mycobacterium avium was prescribed the least often (8.6%). Most PRs and PSs correctly reported that probiotics reduce the risk of antibiotic-induced diarrhea (74.9 and 80.2%, respectively), but there were no significant differences among them. CONCLUSIONS: Significant differences in knowledge and practice patterns exist for probiotics. Identification of knowledge gaps may be useful to develop educational materials to improve the proper definition, knowledge, and use of probiotics.

A Narrative Review on the Update in the Prevalence of Infantile Colic, Regurgitation, and Constipation in Young Children: Implications of the ROME IV Criteria.

Regurgitation, colic, and constipation are frequently reported Functional Gastrointestinal Disorders (FGIDs) in the first few years of life. In 2016, the diagnostic criteria for FGIDs were changed from ROME III to ROME IV. This review assesses the prevalence of the most frequent FGIDs (colic, regurgitation and constipation) among children aged 0-5 years after the introduction of the later criteria. Articles published from January 1, 2016 to May 1, 2021 were retrieved from PubMed and Google Scholar using relevant keywords. A total of 12 articles were further analyzed based on the inclusion and exclusion criteria. This review consists of two studies (17%) from the Middle East, three (25%) from Asia, two (17%) from the USA, three (25%) from Europe, and one (8%) from Africa. Three studies (25%) were based on data obtained from healthcare professionals, while the rest were parent or caregiver reports. About half of the retrieved studies used the ROME IV criteria. Among infants aged 0-6 months, the reported prevalence of colic ranged between 10-15%, whilst that of regurgitation was 33.9%, and constipation was 1.5%. Among infants aged 0-12 months, the reported prevalence of regurgitation and constipation were 3.4-25.9% and 1.3-17.7%, respectively. The reported prevalence of constipation was 1.3-26% among children aged 13-48 months and 13% among children aged 4-18 years. Despite the large variations due to differences in diagnostic criteria, study respondents and age group, the prevalence of infantile colic was higher, while that for infantile regurgitation and constipation were similar using the ROME IV or III criteria.

Progressive Familial Intrahepatic Cholestasis Type 1 Associated with Cherry-Red Spots in an Infant: A First Case Report.

Progressive familial intrahepatic cholestasis type 1 (PFIC1) associated with a cherry-red spot, to our knowledge, has never been reported in the literature. We report the case of a 10­month­old girl with prolonged cholestasis. A diagnosis of PFIC1 was made by whole­exome sequencing. Fundus examination showed a cherry-red spot. Our case provides a new insight toward the first case of ocular manifestation of PFIC1. Further studies are required to elucidate FIC1 gene expression in the macula.

Duodenal Diverticulosis as an Unusual Cause of Severe Abdominal Pain.

Duodenal diverticulosis (DD) is a rare disease in children, and its etiology is unknown. Here, we report a 13-year-old boy with severe abdominal pain. A diagnosis of DD was made based on clinical and image findings. He responds to analgesic, antibiotic and nutritional treatment. The early identification of child with DD as potential cause of severe abdominal pain with pancreatitis is important - because delayed diagnosis might lead to irreversible consequences - to avoid morbidity and mortality, and unnecessary surgery.

Regional variation of pediatric inflammatory bowel disease in Saudi Arabia: Results from a multicenter study.

BACKGROUND: Incidence and severity variations of inflammatory bowel disease (IBD) have been reported from Western populations between continents and regions of the same countries. However, no data were available from other countries. AIM: To investigate the regional differences in the IBD profiles of pediatric patients from the Kingdom of Saudi Arabia. METHODS: Data from a national multicenter IBD study were used. The incidence, time trend, and clinical presentation of Crohn's disease (CD) and ulcerative colitis (UC) in the Central region (CR), Western region (WR), and Eastern region (ER) were analyzed and compared. Statistical analysis included Poisson regression analysis for incidence variation and Chi-square test for demographic and clinical parameters. A P < 0.05 was considered significant. RESULTS: The prevalence of positive family history was lower in children with CD from the ER than the CR or the WR. Consanguinity rate was higher in children with CD and UC from the CR and the ER, respectively. The incidences and time trends of CD and UC were not significantly different between regions. In the ER, a significantly higher percentage of children with CD presented with abdominal pain (P < 0.001), blood in stools (P = 0.048), stricturing or penetrating disease (P = 0.029), higher erythrocyte sedimentation rate (P < 0.001), higher C-reactive protein (P < 0.001), higher anemia (P = 0.017), and lower albumin level (P = 0.014). For children with UC from the ER, a significantly higher percentage presented with anemia (P = 0.006) and a lower percentage with pancolitis (P < 0.001). CONCLUSION: The most important finding is the identification of significantly more severe presentation of CD in the ER of the Kingdom of Saudi Arabia. Prospective studies are needed to explain such variations.