5 month old child with hepatomegaly, ketosis, hyperuricemia and malaise diagnosis
High-Yield Explanation
Mucopolysaccharidosis Acid mucopolysaccharides are abnormally deposited in the tissues,and excreted in the urine. clinical features Mental retardation Cloudy cornea Bone changes:thickening of skull,broad spatula like ribs,beak shaped veebrae facies:coarse,lips are thick,teeth are peg like,bridge of nose depressed hepatosplenomegaly hyperurecemia Ref : ESSENTIAL PEDIATRICS,O.P.GHAI,PG NO:636, 7th edition