Abstract
Four infants presented with intractable diarrhea, vomiting, edema, hepatomegaly and hypoglycemia within the first three months of life. Their parents originated from the Northeastern part of Quebec but consanguinity was only found in the fourth generation of two kindreds. Diarrhea was profuse (60-100 ml/kg/day) despite discontinuation of oral feeding, with stool Na+ and Cl− averaging respectively 126 mEq/1 and 112 mEq/1. Anasarca and severe hypoproteinemia (TP: 3,2 g/dl, albumin: 2.0 g/dl) were secondary to a protein-losing enteropathy. The terminal ileum and large bowel showed cystic dilatation of glands. There was also an acute inflammatory infiltrate of the lamina propria as well as of the glands. These unusual lesions were identical to those described in colitis cystica superficialis known for its association with lethal pellagra, and progressed with time. Small bowel biopsies exhibited a modest degree of villous atrophy and in two there was also mild dilatation of lymphatics. Congenital hepatic fibrosis documented in the four infants was associated in one with a non-fonctional multicystic kidney. Prolonged total parenteral nutrition, I.V. albumin infusions and antibiotics for frequent septic episodes were unsuccessful. A total colectomy In a 10 month old was followed by a temporary decrease in stool output and normalization of serum albumin. All patients died between 4 and 21 months.
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Pelletier, V., Galeano, N., Brochu, P. et al. 711 SECRETORY DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY, COLITIS CYSTICA SUPERFICIALIS AND CONGENITAL HEPATIC FIBROSIS: A NEW SYNDROME. Pediatr Res 19, 229 (1985). https://doi.org/10.1203/00006450-198504000-00741
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DOI: https://doi.org/10.1203/00006450-198504000-00741