Neonatal Hyperthyroidism with Fulminant Liver Failure: A Case Report.

Neonatal hyperthyroidism is a rare disease that is seen in infants born to mothers with Graves' disease. Hepatic manifestation of neonatal hyperthyroidism is extremely rare. We describe a neonate with fulminant liver failure secondary to neonatal hyperthyroidism caused by maternal Graves's disease. The baby was admitted with low birth weight and hepatosplenomegaly. At day 2 of life, the baby was irritable and he developed respiratory distress and fulminant hepatic failure which required mechanical ventilation. All investigations of obstructive, infectious and metabolic causes of hepatic failure were negative. His hepatic dysfunction improvement was correlated with initiation carbimazole as anti-thyroid medication. The conjugated hyperbilirubinemia, liver enzymes and International Normalised Ratio (INR) were gradually improved with normalization by eight weeks. This case has been reported to illustrate lessons learnt for early identification of neonate with hyperthyroidism as potential cause of cholestasis is important, because delayed treatment of hyperthyroidism might lead to irreversible consequences such as mental retardation or even death due to liver failure.

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs in patients presenting to a tertiary care center in Saudi Arabia. METHOD: We conducted a retrospective review of children diagnosed with IEMs presenting to the Pediatric Department of King Abdulaziz Medical City in Riyadh, Saudi Arabia over a 13-year period. RESULTS: Over the 13- year period of this retrospective cohort, the total number of live births reached 110,601. A total of 187 patients were diagnosed with IEMs, representing a incidence of 169 in 100,000 births (1:591). Of these, 121 patients (64.7 %) were identified to have small molecule diseases and 66 (35.3 %) to have large molecule diseases. Organic acidemias were the most common small molecule IEMs, while lysosomal storage disorders (LSD) were the most common large molecule diseases. Sphingolipidosis were the most common LSD. CONCLUSION: Our study confirms the previous results of the high rate of IEMs in Saudi Arabia and urges the health care strategists in the country to devise a long-term strategic plan, including an IEM national registry and a high school carrier screening program, for the prevention of such disorders. In addition, we identified 43 novel mutations that were not described previously, which will help in the molecular diagnosis of these disorders.

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.

Incidence of pediatric inflammatory bowel disease in Saudi Arabia: a multicenter national study.

BACKGROUND: Pediatric inflammatory bowel disease (IBD) is increasingly recognized in developing countries; however, the incidence and trend over time have not been reported. METHODS: This retrospective study included children diagnosed with IBD in gastroenterology centers in the Kingdom of Saudi Arabia between 2003 and 2012. The date of birth, date and age at diagnosis, gender, and final diagnosis were collected on special forms. Clinical, laboratory, imaging, endoscopy, and histopathology results were reviewed to confirm the final diagnosis. Descriptive statistics were used to compare ulcerative colitis and Crohn's disease in different age groups, and significance was assessed by the chi-square test. Incidence rates and trend over time were analyzed with the assumption of Poisson distribution. The incidence rate over time was compared in 2 periods (2003-2007 and 2008-2012). A P value of <0.05 and 95% confidence intervals were used to assess the significance and precision of the estimates. RESULTS: A total of 340 Saudi Arabian children aged 0 to 14 years were diagnosed. The mean incidence rate per 100,000 individuals was 0.2, 0.27, and 0.47 for ulcerative colitis, Crohn's disease, and IBD, respectively. Except for the 0- to 4-year age group, there was a significant increase in incidence over time. CONCLUSIONS: Although the incidence of pediatric IBD in Saudi Arabian children is lower than suggested in the Western literature, there is a significantly increasing trend over time. However, decreased trend in the younger age group over time is identified. Prospective studies will be important to identify the risk factors for IBD in different age groups.

Knowledge and practice styles of pediatricians in Saudi Arabia regarding childhood constipation.

OBJECTIVES: The aim of the present study was to evaluate knowledge and practice styles among medical providers working in 5 regions of Saudi Arabia regarding their approach to childhood constipation. METHODS: A survey of 850 pediatric providers (PPs) conducted in 5 regions of Saudi Arabia. PPs included pediatric specialists (PSs), pediatric consultants (PCs), general practitioners (GPs), family physicians (FPs), and pediatric gastroenterologists (PGs). They were asked anonymously about definition, causes, diagnosis, and management of constipation. Information about family concerns regarding constipation and the source of constipation-related information was also collected. RESULTS: A response rate of 73% yielded 622 questionnaires. Among respondents, 61.2% were aware of the Rome definition of functional constipation. More pediatricians (PSs and PCs) than other physicians (GPs and FPs) reported the definition of constipation correctly (P > 0.05). Stool withholding was reported as the most common cause of constipation by 27% of pediatricians (PSs and PCs), 24% of other physicians (GPs and FPs), and 50% of PGs (P = 0.097). Rectal examination was performed by 39% of all PPs and 78.6% of PGs (P = 0.009). Pediatricians prescribed lactulose significantly more often than physicians (P = 0.001). Pediatricians recommended disimpaction before maintenance treatment significantly more than other physicians (P = 0.001). Twenty-three percent of families believed that constipation was caused by a stricture and 10% feared it was caused by a malignancy. CONCLUSIONS: Significant differences in knowledge and practice patterns exist regarding the approach to pediatric constipation. Identification of knowledge gaps may be useful to develop educational materials to improve proper diagnosis and treatment of childhood constipation.