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 impai rment, 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 reco rded 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 intest inal biopsy specimens, with short villi and increased inflammatory cel ls in the stroma, that did not respond to elimination of such food pro teins as cow's milk or gluten. Electron microscopic study showed dilat ation of smooth endoplasmic reticulum and abnormal inclusions containi ng lipids. The liver was abnormal in all. Besides steatosis and fibros is 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 symptom s. Two of six had abnormal proteinolytic activity in duodenal juice. D igestion of triglycerides and absorption were within normal limits, as was the absorption of glucose and xylose. Conclusions: Inflammation o f small intestine and liver may be the cause of gastrointestinal sympt oms. In all Likelihood, the growth failure was because of low caloric intake and increased losses related to vomiting. Growth and gastrointe stinal symptoms improved spontaneously as time elapsed. (C) 1998 Lippi ncott-Raven Publishers.