A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption

A five-month-old Indian girl, product of consanguineous marriage, presented with diarrhoea with an onset within two days after birth, severe malnutrition and metabolic acidosis. The diarrhoea persisted even with lactose-free formula, amino acid-based formula and glucose-containing oral rehydration solution, but stopped when fasted. She required prolonged parenteral nutrition. Fructose and glucose tolerance tests were performed, confirming the child was able to absorb and metabolize fructose but not glucose, indicating a diagnosis of glucose-galactose malabsorption. This case illustrate how simple and pertinent clinical observations and laboratory investigations is sufficient to allow a firm diagnosis to be made.