50 Years Ago in The Journal of Pediatrics

Lifshitz F, Holman GH. J Pediatr 1964;64:34-44 Fifty years ago, Lifshitz and Holman described a 7-week-old infant with protracted diarrhea and failure to thrive. The stools were acidic with positive reducing substances and a high fecal fat content. The diarrhea resolved, and the infant gained weight when given feeds devoid of all starches and disaccharides with glucose as the only carbohydrate source. This was also accompanied by decrease in fecal fat loss. Postulating deficiency of intestinal disaccharidases, they embarked on an elaborate series of investigations that involved administration of various sugars while measuring change in blood glucose as a means of determining digestion and absorption. They concluded the infant had lactase, sucrose, and isomaltase deficiency. Intestinal biopsy obtained during laparotomy demonstrated “blunted, short villi.” A vague family history of similar problems in infancy lead them to conclude the infant had congenital absence of these disaccharidases. In retrospect, it is unclear whether the infant had congenital disaccharidase deficiencies or deficiencies secondary to intestinal mucosal damage associated with protracted diarrhea and severe malnutrition. The excessive fecal fat loss was a novel finding. Since then, excessive fecal fat loss has been shown to be frequent in infants with diarrhea, and stool fat output increases with increasing stool volume.1Mann M.D. Hill I.D. Peat G.M. Bowie M.D. Protein and fat absorption in prolonged diarrhea in infancy.Arch Dis Child. 1982; 57: 268-273Crossref PubMed Scopus (24) Google Scholar Today, we are able to determine disaccharidase activity from intestinal biopsies obtained during endoscopy. Although relatively rare, congenital deficiencies of lactase and sucrose/isomaltase are now well recognized. Of note is that typically these conditions have normal small intestinal mucosal architecture, unlike the findings in the case described. Other rare congenital causes of diarrhea such as tufting enteropathy and microvillus inclusion disease are also now identifiable. It is unlikely the infant described had any of these conditions as they do not typically respond to dietary manipulation. Without knowing the long-term outcome of this case, we will never know whether this was truly a congenital deficiency or one capable of complete recovery with adequate nutritional rehabilitation. Nevertheless, Lifshitz and Holman were pioneers in identifying disaccharidase deficiencies in an era before these could easily be measured from mucosal tissue samples.