A breast-fed infant began to vomit frequently and lost weight. Several days later infant developed jaundice, hepatomegaly. bilateral cataract. What is possible cause for these symptoms?
The cataract shown is Oil Drop Cataract, which is characteristic of Galactosemia. These clinical manifestations of liver affected when milk is the diet, are typical of Classical Galactosemia. Bilateral cataract rules out the possibility of Von Gierke's disease and Hereditary Fructose Intolerance although other symptoms are there in both these diseases. In Juvenile Diabetes Mellitus, jaundice and hepatomegaly is observed but cataract is never there.
Galactosemia
Juvenile Diabetes Mellitus
Hereditary Fructose Intolerance
Gaucher Disease
Galactose and fructose metabolism