Molecular genetics studies are of increasing importance in the diagnosis and classification of congenital diarrheal disorders. We describe the molecular genetic basis of tricho-hepato-enteric syndrome in patients from Saudi Arabia with novel mutations of SKIV2L (c.3559_3579del, p.1187_1193del) and TTC37 (C4102T, p.Q1368X). Interestingly, the congenital presence of café-au-lait spots and their distribution in the pelvis and lower limbs were a unique and consistent clinical feature of these patients and may aid differential diagnosis of congenital diarrheal disorders. This study expands allelic and phenotypic heterogeneity of syndromic diarrhea/tricho-hepato-enteric syndrome.

Objectives:To assess knowledge of celiac disease among medical professionals (physicians).Methods:We conducted a cross-sectional survey of hospital-based medical staff in primary, secondary, and tertiary care public, and private hospitals in Riyadh, Saudi Arabia (KSA). We carried out the study between January 2013 and January 2104 at King Khalid University Hospital, King Saud University, Riyadh, KSA. A pretested questionnaire was distributed to the potential participants. A scoring system was used to classify the level of knowledge of participants into 3 categories: poor, fair, and good.Results:A total of 109 physicians completed the survey and of these participants, 86.3% were from public hospitals, and 13.7% from private hospitals; 58.7% were males. Of the physicians, 19.2% had poor knowledge. Interns and residents had fair to good knowledge, but registrars, specialists, and even the consultants were less knowledgeable of celiac disease.Conclusion:Knowledge of celiac disease is poor among a significant number of physicians including consultants, which can potentially lead to delays in diagnosis. Educational programs need to be developed to improve awareness of celiac disease in the health care profession.

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Celiac disease (CD) is an immune-mediated disease affecting the small intestine secondary to gluten exposure. The currently available treatment is lifelong adherence to a gluten-free diet (GFD). Several disorders are known to be associated with celiac disease, including Down syndrome (DS). In several studies, the prevalence of CD in DS ranged between 4 and 17%.CD is prevalent in Arabs; however, few studies have been performed to determine the prevalence of CD in DS patients. Our study aimed to determine the prevalence of CD in Saudi Down syndrome patients using serological markers and small bowel biopsy.This is a retrospective study in which files relating to Down syndrome patients who were followed up in a general pediatric clinic at King Faisal Specialist Hospital and Research Center were reviewed regarding demographic data, serological markers and biopsy results.Of the total number of patients reviewed (91), 7 were excluded because data were missing; the remaining 84 patients included 35 females and 49 males. The age range of the patients at the time of screening was from 1 to 18 years. Patient demographic data are shown in Table 1. Among the studied patients, antigliadin antibody (AGA) IgA was high in 27 patients (32.14%), and AGA IgG was high in 44 patients (52.38%). Twelve patients (14.28%) tested positive and 58 (69.04%) tested negative for anti-endomysial antibodies. Anti-tissue glutaminase antibody IgA was found to be high in 13 patients (15.5%) and normal in 54 patients (64.28%). Serum IgA levels were normal in 36 patients (43%) and low in 1 patient (1.2%). Biopsy was performed in 22 patients who tested positive for anti-endomysial or anti-tissue transglutaminase antibodies. The biopsies provided positive results in 9 patients (10.7%).Our study showed a confirmed prevalence of 10.7% for celiac disease in Saudi patients with Down syndrome based on serology and biopsy; together with previous cases reported in the literature, this result indicates a need to screen these patients for celiac disease.

Crigler-Najjar (CN) syndrome is a congenital familial nonhemolytic jaundice associated with high level of unconjugated bilirubin due to deficient uridine diphosphate glucuronosyltransferase (UDPG-T) activity in the liver. The aim of this report is to emphasize the need for increased awareness of this potentially fatal condition unless diagnosed early and managed appropriately. Between 1986-1994, 12 patients (8 males and 4 females) were diagnosed at our hospital with CN syndrome. Jaundice was detected in the first few days of life in all but one, in whom detection was delayed for two weeks and resulted in kernicterus. Exchange transfusions were necessary in six cases. Consanguinity was present in 11 patients, eight of whom were the offspring of first cousins. None of the patients responded to phenobarbital therapy alone, which reflects the severity of their disease. Six patients required only phototherapy while the remaining six patients required a combination of phenobarbital and phototherapy. Percutaneous liver biopsy, performed in 10 patients, showed minimal and focal cholestasis in eight, while the remaining two had a normal histological picture. Almost complete absence of the activity of UDPGT in the liver was reported in seven cases. Kernicterus developed in five cases. It is concluded that CN syndrome remains a potentially fatal condition unless diagnosed early and managed appropriately. The recent adoption of liver segment transplantation, whether orthotopic or living-related, has saved affected patients the daily long hours of phototherapy. One of our patients successfully underwent living-related segmental liver transplantation.

Angiodysplasia is a term used to describe distinct gastrointestinal mucosal ectasias that are not associated with cutaneous lesions, systemic vascular disease or a familial syndrome. Seventy-seven percent of angiodysplasia are located in the cecum and/or ascending colon. Fifteen percent are located in the jejunum and/or ileum and the remainder are distributed throughout the alimentary tract. Most commonly, the angiodysplastic lesions are typically seen in elderly patients of both genders, although gastric and duodenal lesions have been reported occasionally in subjects within the third decade of life. However, data on infants and children are scarce. We describe three cases (ages 7 days, 2 years, and 5 years) who presented to our unit with gastrointestinal bleeding. One of these patients developed moderate-to-severe symptoms and was blood-transfusion dependent. She was misdiagnosed as having inflammatory bowel disease and underwent a total colectomy and ileoanal anastomosis. The other two patients were managed conservatively for up to 5 years with no further bleeding.

Congenital glucose-galactose malabsorption (cGGM) is a rare autosomal recessive disorder, caused by mutations in the SLC5A1 gene, encoding the sodium/glucose cotransporter 1, which may result in severe life-threatening osmotic diarrhea due to the accumulation of unabsorbed sugars in the intestinal lumen. If treated early with elimination of glucose and galactose from the diet, patients usually recover and develop normally. We present clinical and molecular data from 16 unrelated cGGM diagnosed Saudi patients from consanguineous families with majority of them having previous positive family history of cGGM. Sanger sequencing for the full coding regions of SLC5A1 for all patients resulted in the identification of 4 allelic variants in a homozygous state. Two mutations are novel; c.265G>A (p.G89R) and c.1304 G>A (p.G435D), and 2 have been previously reported to cause cGGM, c.765 C>G (p.C255W) and c.1136 G>A (p.R379Q). This is the first report delineating the clinical and molecular basis of cGGM in patients from this region.

Hepatic artery aneurysm is a rare clinical and pathological entity. Although the condition is most frequently discovered as an incidental finding at autopsy, it often presents a difficult diagnostic challenge. The classical triad of abdominal pain, hemobilia and jaundice is rarely seen. Occasionally, patients present with acute abdominal catastrophe due to rupture of the aneurysm into the peritoneal cavity.1 It may not be possible for the diagnosis to be made preoperatively, except at emergency laparotomy.2 We report the case of a seven-year-old boy who presented with acute abdominal pain, jaundice and hemoperitoneum, leading to hypovolemic shock, which required urgent laparotomy and confirmed the rupture of the hepatic artery aneurysm. Case ReportA seven-year-old Saudi boy who had global developmental delay secondary to brain dysgenesis was admitted to King Faisal Specialist Hospital and Research Centre, Riyadh, with a two-day history of abdominal pain, fever and jaundice. The family reported no previous history of trauma, and nor was there any history of joint, skin, or systemic involvement or gastrointestinal bleeding. The patient's physical examination showed a sick-looking child with mild dehydration. He was pale and jaundiced, and his temperature was 39°C. He had a blood pressure of 110/60 mm Hg, heart rate of 90/minute, and respiratory rate of 20/minute. He had a distended abdomen with marked tenderness, as well as rebound tenderness and ascites at the right upper hypochondrium. Bowel sounds were audible and there was no organomegaly. The rest of the systemic examination was normal.Laboratory studies showed white blood cell count of 9.9x109/L, hemoglobin of 8.1 g/dL, reticulocyte count of