Intestinal, pancreatic and hepatic involvement in carbohydrate-deficient glycoprotein syndrome type I.

Background: Children with carbohydrate-deficient glycoprotein syndrome type I during infancy have gastrointestinal symptoms and growth impairment, the cause of which is largely unknown.

Methods: Seven children were investigated with small intestinal biopsy, liver biopsy, duodenal intubation with determination of lipolytic and proteolytic activity, and test meal. Weight, length-height, and head circumference were recorded regularly.

Results: Growth was affected from early infancy, with an initial low rate of weight gain followed by impaired linear growth. Vomiting and diarrhea were dominant symptoms. Four of seven children had abnormal findings in light microscopic examination of small intestinal biopsy specimens, with short villi and increased inflammatory cells in the stroma, that did not respond to elimination of such food proteins as cow's milk or gluten. Electron microscopic study showed dilatation of smooth endoplasmic reticulum and abnormal inclusions containing lipids. The liver was abnormal in all. Besides steatosis and fibrosis or cirrhosis, there was a remarkable increase of inflammatory cells in portal zones. Activity of lipolytic enzymes in duodenal juice was low, except in one child, who no longer had growth problems or symptoms. Two of six had abnormal proteinolytic activity in duodenal juice. Digestion of triglycerides and absorption were within normal limits, as was the absorption of glucose and xylose.

Conclusions: Inflammation of small intestine and liver may be the cause of gastrointestinal symptoms. In all likelihood, the growth failure was because of low caloric intake and increased losses related to vomiting. Growth and gastrointestinal symptoms improved spontaneously as time elapsed.