Background: Congenital glucosegalactose malabsorbtion is a rare autosomal recessive disorder of intestinal transport of glucose and galactose. It is characterized by watery diarrhoea, dehydration, failure to thrive, or early death without appropriate dietary treatment.
Case presentation: The patient was 15 days old when he was admitted to the hospital because of continued, severe, watery, acidic diarrhoea and hypernatremic dehydration. The abnormal stool looses were recorded within 4 days of birth. They were followed by abdominal distension, with no vomiting, and persistent, osmotic, watery diarrhoea for the next 2 months. Despite management with lactose-free semielemental formula, and periodic administration of total parenteral nutrition during hospitalization, severe malnutrition occurred. Further laboratory investigations revealed repeated low blood sugar levels, slight intermitent glycosuria, low stool Ph, and presence of reducing substances in the faeces. Oral glucose tolerance test showed flat blood glucose response. Diagnostic evaluation ruled out infectious aetiology of the diarrhoea, cystic fibrosis, familial chloride diarrhea, and lactose intolerance. The X-ray examination of the intestinal tract revealed no abnormality. The clinical history of the patient and performed laboratory investigations were strongly suggestive of congenital glucosegalactose malabsorption. Dramatic ceasure of the diarrhoea followed when the patient was treated with a commercial glucose and galactose-free formula galctomine 19 (specialized fructose-based formula).
Conclusions: All these findings and further successful, sustained weight gain, established the diagnosis of congenital glucosegalactose malabsorption in our patient. At the age of 12 years he had normal growth and neurological development.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology