Intractable Diarrhea in Early Infancy

Abstract

Twenty infants with intractable diarrhea, whose onset was before 3 months of age, were analyzed. Twelve had identifiable pathological entities sufficient to explain their protracted diarrhea. A systematic diagnostic scheme for such babies is presented. Eight of the 20 infants had no identifiable cause for diarrhea of such severity and refractoriness, and these babies were termed non-specific enterocolitis. Six of these latter eight babies died and at autopsy had widespread enterocolitis with destruction of the mucosa and inflammatory infiltration. The authors believe that in these latter cases, regardless of the initial cause of the diarrhea, certain vicious cycles came into play which perpetuated the diarrhea. Preliminary evidence suggests that colostomy and, perhaps adrenal corticosteroids, may be useful in the therapy of refractory enterocolitis, particularly if applied before the terminal stages of the disease.

Bile Acid Metabolism

“…Intractable diarrhea in infancy is a well-known, yet incompletely defined, syndrome characterized by severe, debilitating diarrhea, a protracted course, malnutrition, and a high mortality rate (44). The syndrome is often refractory to treatment, and parenteral nutrition is required to support life.…”

Protracted Diarrhea in Infancy

“…Protracted diarrhea is a clinical entity originally described by Avery et a1. (1) in 1968 as intractable diarrhea and subsequently reported by other authors (2)(3)(4)(5)(6). In several of these reports, the protracted diarrhea was corrected by parenteral feeding (3)(4)(5)(6) or an elemental diet of protein hydrolysate (2), indicating that an intolerance to cow's milk protein might be involved in perpetuating the diarrheal process.…”

The genetics of monogenic intestinal epithelial disorders

“…Prior to the advent of the genomic era in research and clinical medicine, infants who survived past the neonatal period were often grouped together with a diagnosis of “intractable diarrhea of infancy”. This term was popularized by Avery et al in their description of series of infants with chronic diarrhea of unknown etiology (Avery et al 1968 ). The first descriptions of infants and children with chronic diarrhea of unknown etiology suggestive of a non-acquired heritable etiology were reported by Gamble et al and Darrow in 1945 (Darrow 1945 ; Gamble et al 1945 ).…”