Intractable Diarrhea in Two Brothers: Late Diagnosis of Tufting Enteropathy in Adolescence

Excerpt

Two brothers aged 17 and 19 had been followed in our Pediatric Gastroenterology clinic for over 14 years for complaints of intractable diarrhea of uncertain etiology. Both brothers had 5–6 watery stools per day without emesis, abdominal pain, melena, or hematochezia. They experienced no nocturnal bowel movements and reported some improvement in stool output with fasting. Stool output did not improve during a trial of hydrolyzed or elemental enteral formulae. The brothers were maintained with a regular diet in which concentrated sweets were avoided, and were supplemented with parenteral nutritional support 4 days/week. Both brothers were developmentally appropriate for age and were attending high school. There was no known family history of diarrhea, autoimmune conditions, or other major medical issues. Their medications included loperamide, cyproheptadine, iron, and vitamins C and D. At ages 17 and 19, the brothers were at the 25th and 4th percentile for weight and the 20th and 6th percentile for height, respectively. …