PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and parenteral nutrition, and at times, intestinal transplant. We report a 3‐year‐old with intractable diarrhea and failure to thrive in infancy. Whole exome sequencing revealed uniparental disomy in chromosome 16. Whole genome sequencing later identified a novel point mutation in PERCC1 (proline and glutamate‐rich protein with a coiled coil domain 1), a previously unannotated reading frame flanking the regulatory sequence of the “intestine‐critical region”, linked to enteroendocrine cell function and congenital enteropathy. Despite interventions to ameliorate malabsorption, the patient was dependent on partial parenteral nutrition secondary to profuse osmotic diarrhea, for two consecutive years. He was weaned off parenteral nutrition after starting teduglutide.