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What is A five-year-old boy with coarse facial features, mental retardation, dysostosis multiplex. Corneal clouding was not present. What is the diagnosis: and explain in detail?
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