PP-028 A rare case of intestinal failure in an infant: tufting enteropathy

Aim We would like to share a rare genetic disease of the gastrointestinal system that can present in early life with severe malnutrition and dehydration. Here, we report a case of Tufting enteropathy (TE) in a 20-day-old infant presenting with intractable diarrhea and dehydration. Material and Method . Results An exclusively breastfed 20-day-old female presented to the pediatric emergency department with vomiting and severe diarrhea accompanied by weight loss (-3.4 SDS). The metabolic panel showed metabolic acidosis (pH = 7.1, HCO3 = 9.1 mmol/L), acute kidney injury (Creatinine 1.5 = mg/dL, Urea = 32 mg/dL), and electrolyte imbalance. Peritoneal dialysis was commenced. Total parenteral nutrition (TPN) was initiated following clinical deterioration. Consanguinity, polyhydramnios, normal stool electrolytes, normal immunological laboratory profile, and negative screening of inborn errors of metabolism suggested congenital diarrheas. Acute infectious gastroenteritis, cow's milk protein allergy, cystic fibrosis, chloride-losing enteropathies, metabolic diseases, and immune deficiencies were excluded. Whole Exome Sequencing (WES) revealed a novel variant Epithelial Cell Adhesion Molecule (EPCAM) mutation (c.227C>G, p.Ser76Ter), confirming TE diagnosis. Management with TPN was complicated with catheter-related problems, including infections and thrombosis. The patient was treated with a Tissue Plasminogen Activator for Superior Vena Cava Syndrome and anticoagulant therapy was started. Besides TPN, patient was fed with minimal enteral nutrition including hydrolyzed formula. Conclusions TE is an autosomal recessive enterocyte defect that causes persistent secretory and osmotic diarrhea unrelated to nutrition, starting in the neonatal period with renal and intestinal failure. Incidence is thought to be around 1/5000–100000 live births. The EPCAM gene mutation is responsible for 74% of reported cases, while the SPINT2 gene mutation is seen in cases with syndromic findings. Thanks to recent advancements in genetics, diagnosis can be made through gene mutation even before pathological confirmation. Since patients require parenteral nutrition, they are more susceptible to TPN-related complications.