Prevalence of Clostridium Difficile Infection (CDI) among Inflammatory Bowel Disease (IBD) Patients in Comparison to Non-IBD Patients in King Abdulaziz Medical City in Jeddah.

Background: The prevalence of Clostridium difficile infection (CDI) as a common complication among inflammatory bowel disease (IBD) has been reported to increase worldwide and has been associated with a poor IBD outcome. Objectives: In this study, our aim was to report on the prevalence of CDI among IBD vs. non-IBD patients in King Abdulaziz Medical City (KAMC). Methods: This retrospective descriptive study was carried out between 2016 and 2020. Data of 89 patients reported with CDI in KAMC were analyzed for demographics and correlations between various characteristics such as BMI, personal/family history of IBD, infection with CDI, diagnosis, method of diagnosis, and treatment modalities. Results: Of the total 89 CDI patients, 59 (66.3%) were adults and 30 (33.7%) were pediatric, of which 36 (40.4%) were females and 53 (59.6%) were males. PCR was the main method of choice for the diagnosis of CDI (89.9%) followed by a positive-culture result (10.0%). Seventy-eight (87.6%) CDI patients were found to be immunocompromised, with two patients diagnosed with IBDs, one with UC, and one with CD. The recurrence rate was 38.4 (30 patients) among the immunocompromised group in comparison to 27.2 (3 patients) in the immunocompetent group (p=0.584). Conclusion: In this study, we found that adults were more prone to CDI infection, especially within hospital settings, and most of the CDI infections occurred in immunocompromised individuals, with cancer as the most common cause of it.

Novel Mutation With Literature Review WW Domain-Containing Oxidoreductase (WWOX) Gene.

Genetic alterations in the WW domain-containing oxidoreductase (WWOX) gene cause autosomal recessive developmental and epileptic encephalopathy, characterized by the onset of refractory seizures in infants, along with severe axial hypotonia and profoundly impaired psychomotor development. It has also been expanded to include metabolism and endocrine systems. Despite its function as a tumor suppressor gene, genetic alterations in WWOX have been found in several metabolic disorders and neural diseases related to brain development. Whole-exome sequencing (WES) was performed on the patient sample. Genomic DNA was fragmented, and the exons of known genes in the human genome, as well as the corresponding exon-intron boundaries,were enriched using Roche KAPA capture technology (KAPA hyperExome Library, WES identifying the homozygous variant c.406A>G in WWOX (OMIM:605131). This variant of WWOX was also observed in the prenatal WES data, indicating that both parents were heterozygous carriers and the detected variant was homozygous. This study highlighted the importance of the human WWOX gene in brain development and the association between WWOX gene mutations and developmental delay. We recommend performing WES as a primary screening before the final diagnosis, particularly in populations with high rates of consanguinity and in clinically challenging cases.

Botulinum toxin injection in the management of chronic migraine: the Saudi experience with a proposal for a new protocol.

There are no data from Saudi Arabia about the use of botulinum toxin for migraine prevention. In this article, we aim to study the clinical profile, safety, and response to treatment with botulinum toxin injection for migraine patients. In addition, we aim to share our experience with the use of botulinum toxin modified injection protocol (5/20/100 protocol) in the management of migraine in Saudi patients. A retrospective single-center observational study was conducted at King Abdulaziz Medical City in Jeddah, Saudi Arabia. The protocol for botulinum toxin injection for migraine in our hospital consisted of injecting five muscles with a total of 20 injection sites consuming 100 units of Onabotulinumtoxin A (BOTOX®, Allergan, Inc., Irvine, CA). A total of 30 patients were included in our study. The mean frequency of migraine days showed a significant reduction from baseline at 15.61 ± 10.92 days per month to 6.14 ± 6.16 days (9.47 days reduction) after botulinum toxin injection (39.3% reduction; paired t test = 5.177; p = 0.0001). The frequency of using abortive medications was reduced in 19 patients (63.3%). Only four patients (13.3%) achieved a headache-free status. Only three patients (10%) had adverse events from botulinum toxin injection. In conclusion, botulinum toxin is an effective, safe, and well-tolerated treatment option for the prevention of chronic migraine. Our protocol (5/20/100 protocol) may improve the safety and cost and reduce the incidence of adverse events. Patients who do not respond to our protocol may switch to the standard protocol after the failure of the first treatment session.

The Prevalence of Growth Variations Among Pediatric Celiac Disease Patients at the Time of Diagnosis.

Background and aim Celiac disease is an immune-mediated disorder caused by sensitivity to dietary gluten. Celiac patients typically present with malabsorption and low growth parameters; however, studies have shown that the presentation of celiac disease can have a higher percentage of patients with normal or high growth parameters and no signs of malabsorption. The study aims to estimate the prevalence of the growth variation found in children with biopsy-confirmed celiac disease at the time of diagnosis. Methods We included 31 biopsy-confirmed pediatric celiac patients diagnosed from 2007 to 2018 in King Abdulaziz Medical City, Jeddah, Saudi Arabia. Patients' height, weight, and BMI at the time of diagnosis were converted to z-scores and growth percentiles according to the Centers for Disease Control and Prevention growth charts. In addition, patients' comorbid conditions were also recorded. Results At the time of diagnosis, 45.16% of our patients presented as underweight, 41.94% of patients had normal weight, 6.5% were overweight and obese, respectively. The mean BMI was 15.44 (±3.65). Our population had a statistically significant lower BMI, height, and weight mean z-scores at the time of diagnosis.  Conclusion A significant number of children diagnosed with celiac disease in our center had low weight, height, and BMI at the time of diagnosis. However, we emphasize that having normal growth parameters does not rule out the diagnosis of celiac disease.

Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.

Neuroblastoma amplified sequence (NBAS) gene mutation or infantile liver failure syndrome type 2 (ILFS type 2) is an extremely rare disease characterized by episodic liver failure precipitated by intercurrent febrile illness, and liver function recovering completely. Here, we report a 4-year-old girl with recurrent hepatitis. A diagnosis of ILFS type 2 was made based on NBAS mutation gene found by whole-exome sequencing. Our case provides a new insight toward considering NBAS mutation as a part of the differential diagnoses of any infant presenting with recurrent liver failure or hepatitis. We recommend sequencing NBAS in cases of recurrent hepatitis in infancy of unknown cause, especially in individuals with fever-associated hepatic dysfunction.

A Rare Association of Hepatitis A Virus Infection with Type-1 Diabetes.

Patients with type-1 diabetes are predisposed to develop a spectrum of liver diseases, which includes fatty liver, steatohepatitis and cirrhosis. The association of hepatitis A infection with type-1 diabetes is extremely rare. To the best of our knowledge, our case is the first case report in children. We described a nine year-old girl who had type-1 diabetes and developed hepatitis A virus infection without complications. A review of the literature is also provided.

Prevalence and risk factors of Helicobacter pylori infection in Saudi children: a three-year prospective controlled study.

BACKGROUND: Helicobacter pylori (H. pylori) infection is the most common chronic infections. The risk factors for H. pylori infection in both developing and developed countries are closely related to poor living conditions in childhood. This study aimed to establish the prevalence of H. pylori infection and its associated risk factors among children in the western and central regions of Saudi Arabia. METHODS: A prospective cross-sectional study was performed among symptomatic children in National Guard hospitals who underwent esophagogastroduodenoscopy from 2010 to 2013. The gold standard diagnosis of H. pylori infection was histologic presence of the bacteria in the gastric biopsy. The variables analyzed as possible risk factors included demographic and living characteristics, socioeconomic status, potential mode of transmission, and clinical indications of H. pylori infection. RESULTS: A total of 303 children were included in the study. The overall prevalence of H. pylori infection was 49.8%. Among the studied variables, the following were positively associated with the presence of H. pylori in multivariable analyses: age above 10 years(OR = 11.84, 95% CI = 3.90-35.94, p < .0001), an income of <5000 SR (OR = 2.06, 95% CI = 1.07-3.95), more than eight persons in the household (OR = 3.46, 95% CI = 1.67-7.20), bed sharing (OR = 2.26, 95% CI = 1.32-3.86), and two affected parents (OR = 11.19, 95% CI = 1.29-97.27). Abdominal pain and anorexia were significant predictors of H. pylori infection (p = .005 and .009, respectively). CONCLUSION: Helicobacter pylori infection had a high prevalence among Saudi children in the cities of Jeddah and Riyadh. It was a relatively common cause of abdominal pain and anorexia. In this cohort of children, H. pylori infection was associated with variables indicative of a crowded environment and poor living conditions, further supporting the conclusion that improving socioeconomic conditions and designing a preventive health strategy in Saudi Arabia will likely protect children against this infection.

IgG4-related sclerosing mesenteritis in a 7-year-old Saudi girl.

Sclerosing mesenteritis (SM) is a rare, benign inflammatory disorder of unknown etiology, affecting the membranes of the digestive tract that involves lymphoplasmacytic inflammation, fat necrosis, and fibrosis of the mesentery. We report a child patient with a history of recurrent abdominal pain and fever who was found to have an intra-abdominal mass suspicious for malignancy. A tissue biopsy revealed the diagnosis of SM associated with IgG4-related systemic disease. The patient is currently maintained on 5 mg prednisone daily and no recurrence of symptoms was noted during the 24-month follow-up period. We emphasize, therefore, that SM can present clinical challenges and the presence of SM should cue clinicians to search for other coexisting autoimmune disorders that can have various outcomes.

Perinatal cytomegalovirus hepatitis in Saudi infants: a case series.

BACKGROUND/AIM: Cytomegalovirus (CMV) is the most common congenital viral infection, occurring in 0.4%-2.3% of all live births. The clinical manifestations of CMV are multiorgan involvement. Currently, the numbers of studies of hepatic CMV infection in immunocompetent infants are insufficient and little information exists in the medical literature about the hepatic manifestations and complications of CMV. PATIENTS AND METHODS: Nine infants diagnosed with hepatic CMV infection were included in the study. The diagnosis was based on the presence of IgM anti-CMV antibodies titer in serum and detection of CMV-DNA in blood. The authors identified clinical characteristics, biochemical characteristics, immunologic markers, and the outcome of hepatic CMV with or without treatment. RESULTS: Jaundice was the most common clinical feature of CMV infection in infancy (100%). Hepatic abnormalities in the form of cholestasis (defined as a serum conjugated bilirubin concentration greater than 17.1 µmol/L or greater than 20% of the total serum bilirubin) were found in all patients (100%), hepatitis (77%), hypoalbuminemia (55%), elevated alkaline phosphatase, and gamma-glutamyltransferase (77%). Other findings showed hepatosplenomegaly (44%), thrombocytopenia (22%) and low birth weight (11%) The treatment of hepatic CMV infection was indicated in 66% and was not indicated in 33%. Both of them had resolved cholestasis and hepatitis. CONCLUSION: Jaundice and cholestasis were the most common clinical features of hepatic CMV infections. Hepatic CMV infection in young infants is often a self-limited illness that does not require antiviral therapy. Most of the patients with hepatic CMV infection had a favorable outcome.

Seroconversion of hepatitis B envelope antigen (HBeAg) by entecavir in a child with chronic hepatitis B.

Hepatitis B virus (HBV) infection is a worldwide health problem. Consensus guidelines for the treatment of chronic HBV in children have not been established, and indications for antiviral therapy in adults with chronic HBV infection may not be applicable to children. The medications that are Food and Drug Administration approved for the treatment of children with HBV include interferon (IFN)-alpha and lamivudine. Nondetectable serum HBV deoxyribonucleic acid, Hepatitis B envelope antigen (HBeAg) loss, and HBeAg seroconversion following 1 year duration of entecavir treatment. A review of the literature of entecavir treatment of chronic hepatitis B in children is also provided.

Eosinophilic esophagitis in Saudi children: symptoms, histology and endoscopy results.

BACKGROUND/AIM: Eosinophilic esophagitis (EE) is a clinicopathologic entity characterized by esophageal symptoms in association with a dense eosinophilic infiltrate currently defined as >15 eosinophils per high power field in the appropriate clinical context. This is the first pediatric study in Saudi Arabia to give the experience with EE and examine its symptom, histology and endoscopy results. MATERIALS AND METHODS: Retrospective chart review of all patients diagnosed with EE at National Guard Hospital, Jeddah Between 2007 and 2009. The authors identified EE on histologic criteria (≥15 eosinophils per high-power field) together with their clinical context. The authors reviewed medical records for details of clinical presentation, laboratory data, radiologic, endoscopic, and histologic findings, and the results of treatment. RESULTS: We identified 15 patients in our database in the last three years. 100% of the patients were males. The median age at presentation was 10 years (range, 3-17 years). The commonly reported symptoms were failure to thrive (86%), epigastric abdominal pain (53%), poor eating (40%), dysphagia with solid food (26%), food impaction (13%), and vomiting (20%). Asthma was reported in 46% and allergic rhinitis in 40%. Peripheral eosinophilia (>0.7 Χ 10/l) was found in 66%. High serum IgE Level (>60 IU/ml) was found in 60%. Upper endoscopic analysis revealed esophageal trachealization in 46%, esophageal erythema in 46%, white specks on the esophageal mucosa in 33%, esophageal narrowing in 13%, and normal endoscopy in 13%. The mean eosinophils per high-power field was 30.4 (range, 20-71). Histologic characteristics included degranulated eosinophils (86%), basal cell hyperplasia (93%) and eosinophils clusters (micro-abscess) in 73%. The treatment of EE revealed that they used swallowed corticosteroid in 50%, proton pump inhibitors in 66%, elemental diet/ food elimination in 13% and systemic corticosteroid in 13%. CONCLUSIONS: Failure to thrive and abdominal pain in a male, atopic school-aged child was the most common feature of EE. Peripheral eosinophilia, high serum IgE and endoscopic esophageal erythema and trachealization should significantly raise the clinical index of suspicion for the diagnosis of EE.

Rickets and dysmorphic findings in a child with abetalipoproteinemia.

Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrhea. Here, we describe a case of ABL associated with rickets and dysmorphic findings and the subsequent therapeutic course in an 18-month-old male referred for evaluation for failure to thrive and chronic fatty diarrhea. Examination revealed a pale child, dysmorphic face, and signs of rickets. Laboratory examination revealed low hemoglobin (3.7 gm/dl), low albumin (28 gm/L), low cholesterol and triglyceride levels. The blood smear showed acanthocytes while the small bowel histology showed the enterocytes were distended with lipid droplets. He was diagnosed with ABL and treated with fat-soluble vitamins (ADEK), and hydrolyzed protein formula containing medium chain triglycerides. Three months later, his fatty diarrhea becomes normal stool, his serum fat-soluble vitamins normalized, and his weight increased from 4.1 kg to 5.9 kg.