Prolidase Deficiency Masquerading as Congenital Diarrhea

Congenital diarrheas and enteropathies (CODE) are morbid illnesses with potentially fatal outcomes. We describe here two infants with a distinctly different disease with CODE-like presentation, coincidentally from the same geographical area. The young infants with chronic loose stools presented with dehydration and shock, metabolic acidosis, dyselectrolytemia, and stool osmolar gap suggestive of secretory diarrhea. A vague erythematoid appearance of flexures and the face was noted in one infant, and no skin findings were noted in the other. They were treated as CODE due to the above findings. The infants required fluid resuscitation, ventilation, parenteral nutrition, and a trial of amino acid formula after a period of stabilization. One infant succumbed after 4 weeks of therapy. The other improved with an amino acid formula and is on regular follow-up. The diagnosis was obtained by clinical exome, as prolidase deficiency (PD). This presentation of PD in neonates as CODE-like illness is extremely rare; more so, with a fulminant course that proved fatal for one. Absence of the classical features of typical skin involvement or other described symptomatology must not deter appropriate workup for an accurate diagnosis. This would aid in parent counseling and future pregnancy management.