A five-year-old boy with coarse facial features, mental retardation, dysostosis multiplex. Corneal clouding was not present. What is the diagnosis:
Coarse facial features is a typical feature of Mucopolysaccharidosis (MPS). Hunter disease : MPS Type II, Iduronate Sulfatase is deficient. X-linked recessive, so occurs exclusively in males. No corneal clouding. Dermatan sulphate & Heparin Sulphate accumulates. Accumulation of Heparin Sulphate leads to mental retardation. Corneal clouding is present in Hurler disease so option 2 is ruled out
MPS Type IV
Hurler disease
Hunter disease
Gaucher's disease
Gluconeogenesis