FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.

Objectives: Few genetic causes of exocrine pancreatic dysfunction have been described to date. We identified a family with multiple affected members manifesting exocrine pancreatic dysfunction. Additional associated features included facial rash, sparse hair, hypohidrosis, and swelling of the extremities.

Iodine Deficiency in a Parenteral Nutrition-Dependent Adolescent With Intestinal Pseudo-Obstruction.

Routine supplementation of iodine in parenteral nutrition (PN) solutions is not current practice in the United States. In this case study, we describe an incidental finding of goiter in a long-term PN-dependent adolescent. With increased iodine screening, we then identified additional patients with undetectable urinary iodine concentrations in our population of children with short bowel receiving long-term PN.