Abstract
A 4-year-old girl with a lifelong history of severe growth failure, psychomotor retardation, chronic anemia, and prolonged periods of hypoproteinemic edema is described. Recent studies have demonstrated a lack of pancreatic trypsin, chymotrypsin, carboxypeptidase, and lipase in the duodenal fluid. Normal amylase activity was found to be present in the duodenal aspirate. Balance studies have confirmed the proteolytic and lipolytic defect. The patient has responded well to a protein-hydrolysate diet with added pancreatin. The selective deficiency (proteolytic and lipolytic) observed in this patient appears to represent a previously unreported example of discordant pancreatic enzyme secretion. The relationship of this disorder to related disorders in discussed.
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