Publications by authors named "Abdulrahman A Al-Hussaini"

18 Publications

  • Page 1 of 1

New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.

J Hum Genet 2021 Feb 6;66(2):151-159. Epub 2020 Aug 6.

Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.

Biallelic variants in the USP53 gene have recently been reported to segregate with normal gamma glutamyltransferase (GGT) cholestasis. Using whole-exome sequencing (WES), we detected two USP53 homozygous variants (c.951delT; p. Phe317fs and c.1744C>T; p. Arg582*) in five additional cases, including an unpublished cousin of a previously described family with intractable itching and normal GGT cholestasis. Three patients, a child and two adults, presented with recurrent episodes of normal GGT cholestasis, consistent with a diagnosis of benign recurrent intrahepatic cholestasis (BRIC). Cholangiopathic changes, possibly autoimmune in origin, were recognized in some patients. Additional phenotypic details in one patient included an enlarged left kidney, and speech/developmental delay. Notably, two patients exhibited a complete response to rifampicin, and one responded to ursodeoxycholic acid (UDCA). Two adult patients were suspected to have autoimmune liver disease and treated with steroids. This report describes new cases of USP53 disease presenting with normal GGT cholestasis or BRIC in three children and two adults. We also describe the novel finding of a dramatic response to rifampicin. The association of cholangiopathy with normal GGT cholestasis provides a diagnostic challenge and remains poorly understood.
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http://dx.doi.org/10.1038/s10038-020-0811-1DOI Listing
February 2021

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

World J Gastroenterol 2020 Jan;26(4):416-423

Department of Pediatrics, Gastroenterology Unit, King Saud University, Riyadh11461, Saudi Arabia.

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 < 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 ( < 0.001), blood in stools ( = 0.048), stricturing or penetrating disease ( = 0.029), higher erythrocyte sedimentation rate ( < 0.001), higher C-reactive protein ( < 0.001), higher anemia ( = 0.017), and lower albumin level ( = 0.014). For children with UC from the ER, a significantly higher percentage presented with anemia ( = 0.006) and a lower percentage with pancolitis ( < 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.
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http://dx.doi.org/10.3748/wjg.v26.i4.416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7002901PMC
January 2020

Overweight and obesity among Saudi children: Monitoring of the trend is what matters most.

Saudi J Gastroenterol 2019 Nov-Dec;25(6):400-401

Consultant Pediatrician, Gastroenterologist and Hepatologist, College of Medicine, Alfaisal University, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.4103/sjg.SJG_587_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941462PMC
January 2020

Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.

Clin Genet 2020 03 2;97(3):447-456. Epub 2019 Dec 2.

Developmental Genetics Unit King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications.
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http://dx.doi.org/10.1111/cge.13676DOI Listing
March 2020

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Genome Med 2019 06 17;11(1):38. Epub 2019 Jun 17.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Background: Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test.

Methods: In May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs. This study reports the clinical utility and diagnostic yield for a heterogeneous group of 254 consecutively referred PID patients from 249 families. For the majority of patients, the clinical diagnosis was based on clinical criteria including rare and/or unusual severe bacterial, viral, or fungal infections, sometimes accompanied by autoimmune manifestations. Functional immune defects were interpreted in the context of aberrant immune cell populations, aberrant antibody levels, or combinations of these factors.

Results: For 62 patients (24%), exome sequencing identified pathogenic variants in well-established PID genes. An exome-wide analysis diagnosed 10 additional patients (4%), providing diagnoses for 72 patients (28%) from 68 families altogether. The genetic diagnosis directly indicated novel treatment options for 25 patients that received a diagnosis (34%).

Conclusion: Exome sequencing as a first-tier test for PIDs granted a diagnosis for 28% of patients. Importantly, molecularly defined diagnoses indicated altered therapeutic options in 34% of cases. In addition, exome sequencing harbors advantages over gene panels as a truly generic test for all genetic diseases, including in silico extension of existing gene lists and re-analysis of existing data.
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http://dx.doi.org/10.1186/s13073-019-0649-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6572765PMC
June 2019

Where are we today with infection among healthy children in Saudi Arabia?

Saudi J Gastroenterol 2019 Sep-Oct;25(5):309-318

The Division of Pediatric Infectious disease, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Background/aims: The available studies on Helicobacter pylori (H. pylori) prevalence among healthy asymptomatic population across Saudi Arabia suffers from significant limitations. We conducted this large population-based study to estimate the H. pylori seropositivity rate among apparently healthy children in Saudi Arabia, using anti-H. pylori immunoglobulin A (IgA) and IgG serology tests, and to study the influence of H. pylori infection on growth.

Materials And Methods: We conducted a cross-sectional study to screen apparently healthy school aged Saudi children (aged 6-15 years), attending primary and intermediate schools in Riyadh between 2014 and 2016, for H. pylori seropositivity by checking for the presence of anti-H. pylori IgG and IgA antibodies in serum specimens.

Results: Out of 3551 serum specimens, 1413 cases tested seropositive for H. pylori organism (40%): 430 (12.2%) were both IgG and IgA positive, 212 (6%) and 771 (21.7%) cases showed isolated positivity for IgG or IgA, respectively. Male gender, older age, lower levels of socioeconomic status (SES), and family members >10 were significantly associated with H. pylori seropositivity. The proportion of participants with short stature was significantly more in the H. pylori seropositive group than the seronegative group (OR1.249, confidence interval [1.020-1.531], P= 0.033). There was no significant association between H. pylori seropositivity and gastrointestinal symptoms.

Conclusion: The prevalence of H. pylori seropositivity among apparently healthy Saudi children (40%) is intermediate compared with that in developed and developing countries. The Saudi pediatric population shows a predominant IgA-type immunological response to H. pylori infection.
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http://dx.doi.org/10.4103/sjg.SJG_531_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6784433PMC
April 2020

Diagnostic delay of pediatric inflammatory bowel disease in Saudi Arabia.

Saudi J Gastroenterol 2019 Jul-Aug;25(4):257-261

Department of Pediatrics, Division of Gastroenterology and Prince Abdullah Bin Khalid Celiac Disease Research Chair, King Saud University, Riyadh, Kingdom of Saudi Arabia.

Background/aim: Delay in the diagnosis of inflammatory bowel disease (IBD) is associated with complications. Our aim was to describe the pattern and risk factors associated with delay in the diagnosis of IBD in Saudi children.

Patients And Methods: This was a multicenter study with a retrospective/prospective design. Data on diagnostic delay in children with Crohn's disease (CD) and ulcerative colitis (UC) were retrieved from physician's notes. Multivariate regression analysis was used to assess the risk factors associated with long delay in diagnosis.

Results: There were 240 and 183 Saudi children with CD and UC, respectively. The median delays in diagnosis were 8 and 5 months in CD and UC, respectively, significantly longer in children with CD than UC (P < 0.001). Long diagnostic delays (>75 percentile) were 24 and 8.8 months for CD and UC, respectively. Ileal location was a significant risk factor in CD and the age of onset above 10 years was protective in UC.

Conclusions: Long diagnostic delay in IBD was mainly due to the longer delay in gastroenterologist consultation. Review of the referral system is needed to focus on measures to reduce long delays in diagnosis. The ileal location as a risk factor in CD and age older than 10 years as protective in UC should help recognition and early referral.
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http://dx.doi.org/10.4103/sjg.SJG_457_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714469PMC
April 2020

Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study.

J Pediatr Gastroenterol Nutr 2017 12;65(6):613-620

Pediatric Hepatology and Pediatric Liver Transplantation Unit and National Reference Centre for Rare Pediatric Liver Diseases, Hepatinov, Bicêtre Universitary Hospital, University of Paris-Sud, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre.

Objectives: Early diagnosis of bile acid synthesis disorders (BASDs) is important because, untreated, these conditions can be fatal. Our objectives were to screen children with cholestasis or unexplained liver disease for BASD and in those with confirmed BASD to evaluate the effectiveness of cholic acid therapy.

Methods: A routine serum total bile acid measurement was performed on children with cholestasis, liver cirrhosis, and liver failure. Patients were screened for BASD by fast atom bombardment ionization-mass spectrometry (FAB-MS) analysis of urine, and molecular analysis confirmed diagnosis. Treatment response to oral cholic acid (10-15 mg/kg bw/day) was assessed from liver function tests and fat-soluble vitamin levels. FAB-MS analysis of urine was used to monitor compliance and biochemical response.

Results: Between 2007 and 2016, 626 patients were evaluated; 450 with infantile cholestasis. Fifteen cases of BASD were diagnosed: 12 presented with infantile cholestasis (2.7%, 7 boys), an 8-year-old boy presented with cirrhosis, and two 18-month-old boys presented with hepatomegaly and rickets. Eleven were caused by 3β-hydroxy-Δ-C27-steroid oxidoreductase dehydrogenase deficiency, 3 from Δ-3-oxosteroid 5β-reductase deficiency, and 1 had Zellweger spectrum disorder. In all but 1, serum total bile acids were normal or low. With cholic acid therapy, 10 are alive and healthy with their native liver. Liver failure developed in 3 infants despite therapy; 2 died and 1 underwent liver transplantation.

Conclusions: BASDs are rare but treatable causes of metabolic liver disease in Saudi Arabia. BASD should be considered in infants with cholestasis and low or normal serum total bile acid concentrations.
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http://dx.doi.org/10.1097/MPG.0000000000001734DOI Listing
December 2017

Impact of pediatric inflammatory bowel disease on linear growth: Data from a national cohort study in Saudi Arabia.

Saudi J Gastroenterol 2016 Mar-Apr;22(2):106-8

Department of Pediatrics, Head, Pediatric Inflammatory Bowel Disease Research Group, Member of Prince Abdullah Bin Khalid Celiac Disease Research Chair, King Saud University, Riyadh, Saudi Arabia.

Background/aim: Linear growth impairment (LGI) is one of the most important features peculiar to children with inflammatory bowel disease (IBD). The aim of this report is to define the impact of IBD on the linear growth of children in the Kingdom of Saudi Arabia (KSA).

Setting And Design: Multicenter retrospective study.

Patients And Methods: Data from a cohort of newly- diagnosed children with IBD from 2003 to 2012 were analyzed retrospectively. The diagnosis of IBD was confirmed in accordance with the published criteria. Length/height for age was measured at diagnosis. The World Health Organization (WHO) reference was used and LGI was defined by length/height for age <-2 standard deviation. Chi-square test was used to test the significance of estimates and a P < 0.05 was considered significant.

Results: There were 374 children from 0.33 to 16 years of age, including 119 ulcerative colitis (UC) (32%), and 255 Crohn's disease (CD) (68%) patients. The prevalence of LGI was 26%, 28%, and 21% in IBD, CD, and UC, respectively. In children below 10 years, LGI was significantly more common in CD (P = 0.010), while in UC children, it was more common in older children (P = 0.011).

Conclusion: This study demonstrates a prevalence of LGI consistent with that reported in the literature, but higher in CD children with early onset (<10 years) and in older children with UC, underscoring the importance of monitoring growth in children with IBD in the Saudi population. Prospective studies are needed to define the impact of IBD on growth velocity, puberty, and final adult stature.
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http://dx.doi.org/10.4103/1319-3767.178524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817292PMC
January 2017

Does vitamin E improve the outcomes of pediatric nonalcoholic fatty liver disease? A systematic review and meta-analysis.

Saudi J Gastroenterol 2014 May-Jun;20(3):143-53

Department of Pediatric, Gastroenterology Unit, King Khalid University Hospital; Prince Abdullah Bin Khalid Celiac Disease Research Chair, King Saud University, Riyadh, Saudi Arabia.

Background And Aims: To systemically evaluate the efficacy of adjuvant vitamin E on the outcomes of nonalcoholic fatty liver disease (NAFLD) and/or nonalcoholic steatohepatitis (NASH) in children.

Materials And Methods: We searched MEDLINE, PUBMED, EMBASE, the Cochrane Central Register Controlled Trials, and the Cochrane Database of Systematic Reviews over the period between January 1980 and September 2012 for the studies that examined the role of adjuvant vitamin E given at any dose or duration, alone or in combination with other interventions, on the outcome of pediatric NAFLD. The outcomes are alanine aminotransferase (ALT) normalization and histological improvement.

Results: Five randomized trials were eligible to be included in our analysis, with a total of 270 participants. There was no statistically significant difference in the effect of adjuvant vitamin E on normalizing serum ALT [risk ratio (RR) =1.18, confidence interval (CI) =0.92-1.53, P = 0.77 for heterogeneity, I2 = 0%]. Sensitivity analysis showed that using higher doses of vitamin E, a longer duration of therapy or adding vitamin C did not change the effect on the measured outcome. Only two studies looked at histological changes as an outcome. We observed substantial heterogeneity between the two studies.

Conclusions: Our meta-analysis did not find a significant effect of adjuvant vitamin E over placebo in normalizing serum ALT. Data on the long-term effect of adjuvant vitamin E on histological improvements in NAFLD patients are still lacking. Larger, well-designed randomized controlled trials (RCTs) in children with histological endpoints are still needed to answer this question.
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http://dx.doi.org/10.4103/1319-3767.132983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067910PMC
March 2015

Autoimmune hepatitis related autoantibodies in children with type 1 diabetes.

Diabetol Metab Syndr 2014 Mar 17;6(1):38. Epub 2014 Mar 17.

Department of Pediatrics at King Fahad Medical City, Riyadh, Saudi Arabia.

Background And Objectives: The frequency of Type 1 diabetes (T1D)-related autoantibodies was determined in children with autoimmune hepatitis. However, the incidence of autoimmune hepatitis related autoantibodies in children with T1D has been poorly investigated. The aim of the present cross sectional prospective study was to determine the occurrence of autoimmune hepatitis-related autoantibodies in children with T1D.

Methods: Children with T1D following in diabetic clinic in our center were screened for existence of liver related autoantibodies from November 2010 to November 2011. The patients' sera were analyzed for the existence of autoantibodies such as anti-nuclear antibody, anti-smooth muscle antibody, and anti-Liver Kidney microsomal antibody, using enzyme linked immunoassay and indirect immunofluorescence methods. A titer of anti-nuclear antibody ≥1/40 was considered positive and titer of < 1/40 was considered negative. Anti-liver kidney microsomal antibody titer of < 3 U/ml was considered negative, 3 - 5 U/ml borderlines, and > 5 U/ml was considered positive.

Results: 106 children with T1D have been examined over a one-year period: age ranges between 8 months to 15.5 years, sixty two patients were females. Autoantibody screen revealed a girl with positive anti-liver kidney microsomal antibody (1%) and 8 children had positive anti-nuclear antibody (7.5%), without clinical, biochemical or radiologic evidence of liver disease. None of the patients had positive smooth muscle antibody.

In Conclusion: Anti-liver kidney microsomal antibody is rarely found in sera of children with T1D; the clinical significance of which is unknown.
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http://dx.doi.org/10.1186/1758-5996-6-38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995446PMC
March 2014

A case of pediatric gastrointestinal basidiobolomycosis mimicking Crohn`s disease. A review of pediatric literature.

Saudi Med J 2013 Oct;34(10):1068-72

Department of Pediatrics, Children's Hospital, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

Basidiobolomycosis is a rare fungal infection caused by basidiobolus ranarum. The vast majority of gastrointestinal basidiobolomycosis cases were reported from tropical and subtropical regions. We report a Saudi pediatric patient with ileal basidiobolomycosis and initial clinical presentation mimicking acute appendicitis before being misdiagnosed as Crohn's disease. Our case is the first to report effective treatment of pediatric gastrointestinal basidiobolomycosis using voriconazole mono-therapy. In addition, we present extensive review of pediatric gastrointestinal basidiobolomycosis in medical literature.
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October 2013

Is there an association between type 1 diabetes in children and gallbladder stones formation?

Saudi J Gastroenterol 2013 Mar-Apr;19(2):86-8

Division of Gastroenterology, Children's Hospital, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

Background And Aims: A number of studies in adults have evaluated the prevalence of gallstones in the diabetic population and showed a significant association with type 1 diabetes (T1D) and type 2 diabetes. The pediatric literature is limited to a single small case series. We conducted a cross-sectional study to evaluate for the presence of association between T1D in children and gallstones formation.

Patients And Methods: Children diagnosed with T1D in a diabetic clinic have been examined for existence of gall bladder stone formation from November 2008 through November 2009. All have been subjected to the following: History, physical examination, blood tests (liver function tests, lipid profile, glycosylated hemoglobin [HbA1C]), and an ultrasound (US) of the gall bladder.

Results: One hundred and five children with T1D have been enrolled consecutively over a 1-year period: age ranged between 8 months and 15.5 years, 62 patients were females. The mean age at diagnosis was 6.3 ± 2.9 years (range 0.85-11 years), mean duration of T1D was 2.2 ± 2.1 years (range 0.2-8 years), mean body mass index was 16.5 ± 3.4, mean HbA1c was 10.7 ± 2.4%, and 61.3% of patients had a HbA1c level >10%. The mean serum cholesterol was 4.16 ± 0.75 mmol/L (normal 3.65-5.15 mmol/L) and mean serum triglyceride 1.02 ± 1.3 mmol/L (normal 0-1.7 mmol/L). Two patients had hyperlipidemia. US of the gallbladder did not show any case of gallstones or sludge formation.

Conclusion: Data from our study do not show any association between T1D in children and gallstones formation, with diabetes duration of less than 8 years. The relatively short duration of diabetes and possibility that our study was underpowered might have been reasons for the absence of any association.
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http://dx.doi.org/10.4103/1319-3767.108482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3632016PMC
September 2013

Prevalence of hepatopathy in type 1 diabetic children.

BMC Pediatr 2012 Oct 6;12:160. Epub 2012 Oct 6.

Division of Pediatric Gastroenterology, Hepatology & Nutrition, University of King Saud bin Abdulaziz for Health sciences Children's Hospital, PO box 59046, King Fahad Medical City, Riyadh, 11525, Kingdom of Saudi Arabia.

Background: The Prevalence of liver disease among diabetics has been estimated to be between 17% and 100%. Most of these data were obtained from adult studies. The aim of our study was to screen for liver disease among type 1 diabetic children.

Methods: Children with type 1 diabetes following in clinic have been examined for existence of liver disease, from November 2008 to November 2009. All were subjected to the following: History, physical examination, liver function tests, fasting lipid profile, HbA1C, and ultrasound of the liver. A hyperechogenic liver and/or hepatomegaly on ultrasound were attributed most likely to excess glycogen or fat in the liver, after negative extensive work-up to rule out other underlying liver disease.

Results: 106 children with type 1 diabetes were studied: age ranged between 8 months to 15.5 years, sixty two patients were females. Twenty two patients (21%) were identified to have abnormal findings on ultrasound of the liver: 10 patients had hepatomegaly and 12 had hyperechogenic liver. The group with hyperechogenic liver had poorer glycemic control than patients with normal liver (Mean HbA1c 12.14% Vs 10.7%; P value = 0.09). Hyperechogenic liver resolved in 60% at 6 months follow-up upon achieving better glycemic control.

Conclusions: Hyperechogenic liver and/or hepatomegaly are not uncommon in children with type 1 diabetes and tend to be more prevalent among children with poor glycemic control. Type 1 diabetes related hepatopathy is reversible by optimizing glycemic control. Because of its safety, and reliability, ultrasound can be used to screen for hepatopathy in type 1 diabetic child.
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http://dx.doi.org/10.1186/1471-2431-12-160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506494PMC
October 2012

Herpes simplex ulcerative esophagitis in healthy children.

Saudi J Gastroenterol 2011 Sep-Oct;17(5):353-6

Department of Pediatrics, Division of Pediatric Gastroenterology, Children's Hospital, Riyadh, Saudi Arabia.

Herpes simplex virus is a common cause of ulcerative esophagitis in the immunocompromised or debilitated host. Despite a high prevalence of primary and recurrent Herpes simplex virus infection in the general population, Herpes simplex virus esophagitis (HSVE) appears to be rare in the immunocompetent host. We report three cases of endoscopically-diagnosed HSVE in apparently immunocompetent children; the presentation was characterized by acute onset of fever, odynophagia, and dysphagia. In two cases, the diagnosis was confirmed histologically by identification of herpes viral inclusions and culture of the virus in the presence of inflammation. The third case was considered to have probable HSVE based on the presence of typical cold sore on his lip, typical endoscopic finding, histopathological evidence of inflammation in esophageal biopsies and positive serologic evidence of acute Herpes simplex virus infection. Two cases received an intravenous course of acyclovir and one had self-limited recovery. All three cases had normal immunological workup and excellent health on long-term follow-up.
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http://dx.doi.org/10.4103/1319-3767.84496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3178925PMC
January 2012

Magnetic toy ingestion leading to jejunocecal fistula in a child.

Saudi Med J 2010 Apr;31(4):442-4

Department of Pediatric Surgery, King Fahd Medical City, Riyadh, Kingdom of Saudi Arabia.

The accidental ingestion of a foreign body is a common problem in children, but ingestion of magnets is rare. When multiple magnets are ingested, they may attract each other and cause pressure necrosis through the bowel walls and eventually lead to serious complications like obstruction, perforation, and fistula formation. We report a case of a 5-year-old girl with jejunocecal fistula following ingestion of 2 magnet toys; it highlights the diagnostic challenge and the need for early surgical intervention in children especially when multiple magnets are ingested.
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April 2010

Esophageal trachealization: a feature of eosinophilic esophagitis.

Saudi J Gastroenterol 2009 Jul-Sep;15(3):193-5

Department of Medicine, Children's Hospital, King Fahad Medical City, King Saud Medical Complex, Riyadh - 11525, abia.

Eosinophilic esophagitis (EE) is an inflammatory condition characterized by intense eosinophilic infiltration of the esophagus. EE is frequently misdiagnosed as gastroesophageal reflux disease. Here, we present a child with EE and a characteristic endoscopic finding, "ringed esophagus". An 11-year-old Saudi boy presented with dysphagia for 1 year. He had experienced an intermittent sensation of solid food sticking in his chest, which was relieved by drinking liquids. A barium swallow excluded anatomical causes of dysphagia, but revealed multiple-ringed esophagus. Endoscopy showed a furrowing and trachealizing appearance of the entire esophagus. Hisologically, extensive eosinophilic infiltration was a feature in biopsies obtained from the esophagus. The child responded well to a 2-month course of inhaled fluticasone. Symptoms recurred 3 months after discontinuation of therapy, which necessitated resumption of inhaled fluticasone. The endoscopic appearance of multiple esophageal rings should raise suspicion of EE and be confirmed by esophageal biopsies.
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http://dx.doi.org/10.4103/1319-3767.54747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841420PMC
October 2009

Crohn's disease and cheilitis.

Can J Gastroenterol 2003 Jul;17(7):445-7

Department of Pediatrics, Alberta Children's Hospital, Calgary, Canada.

A five-year-old boy presented to his family physician with painless swelling of both lips. One year later he developed abdominal pain, nonbloody diarrhea, weight loss and joint pains. Colonoscopic examination demonstrated patchy erythema, friability and multiple aph-thous ulcers consistent with the appearance of Crohn's colitis, and treatment with prednisone was initiated. Colonic biopsies displayed a chronic inflammatory cell infiltrate, focal cryptitis and fissure formation. The patient's lip swelling relapsed on multiple occasions when steroids were tapered, despite minimal intestinal symptoms of Crohn's disease. The objective of the present report is to alert physicians to this unusual presentation of Crohn's disease and that cheilitis may run a protracted course.
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http://dx.doi.org/10.1155/2003/368754DOI Listing
July 2003