PSC has a chronic, progressive course in children, and nearly half of patients develop an adverse liver outcome after 10 years of disease; elevations in bilirubin, gamma-glutamyltransferase, and aspartate aminotransferase-to-platelet ratio index at diagnosis can identify patients at highest risk; small duct PSC and PSC-inflammatory bowel disease are more favorable disease phenotypes. (Hepatology 2017;66:518-527).

Ganglioneuromas (GN) are rare, benign neurogenic tumors that arise from sympathetic ganglia. They are often asymptomatic. However, in rare cases, they may secrete catecholamines, vasoactive intestinal polypeptides (VIP), or androgenic hormones and manifest with flushing, symptoms of catecholamine excess or chronic diarrhea. We report a young Saudi girl with chronic secretory diarrhea, severe hypokalemia and abdominal distension. After an extensive work up, a well-defined hypodense heterogeneous mediastinal mass was noted in radio imaging. A complete recovery was seen after surgical removal of that mediastinal mass which turned to be a ganglioneuroma.

Background: Natural history models for primary sclerosing cholangitis (PSC) are derived from adult patient data, but have never been validated in children. It is unclear how accurate such models are for children with PSC. Methods: We utilized the pediatric PSC consortium database to assess the Revised Mayo Clinic, Amsterdam-Oxford and Boberg models. We calculated the risk stratum and predicted survival for each patient within each model using patient data at PSC diagnosis, and compared it to observed survival. We evaluated model fit using the c-statistic. Results: Model fit was good at one year (c-statistics 0.93, 0.87, 0.82) and fair at ten years (0.78, 0.75, 0.69) in the Mayo, Boberg and Amsterdam-Oxford models, respectively. The Mayo model correctly classified most children as low risk, whereas the Amsterdam-Oxford model incorrectly classified most as high risk. All of the models underestimated survival of patients classified as high risk. Albumin, bilirubin, AST and platelets were most associated with outcomes. Autoimmune hepatitis was more prevalent in higher risk groups, and overweighting of AST in these patients accounted for the observed vs. predicted survival Conclusion: All three models offered good short-term discrimination of outcomes but only fair long-term discrimination. None of the models account for the high prevalence of features of autoimmune hepatitis overlap in children and the associated elevated aminotransferases. A pediatric-specific model is needed. AST, bilirubin, albumin and platelets will be important predictors, but must be weighted to account for the unique features of PSC in children.

Transaldolase TALDO defi ciency is a rare autosomal recessive disorder of the pentose phosphate pathway. It has variable presentations with poor outcome when present early in life. We present a young Saudi infant with a fatal early presentation of TALD defi ciency.

Sickle cell anemia (SCA) is a chronic haemoglobinopathy that can affect many organs in the body including gastrointestinal tract. However, colonic involvement is very rare and usually in the form of ischemic colitis. We are reporting an 11-year-old Saudi girl with SCA who presented with persistent diarrhea and was found to have inflammaftory bowel disease.