Sameea Latif, Ayesha Arif.
Hunter’s Syndrome: Mucopolysaccharidosis Type II.
Pak Paed J Jan ;38(4):257-60.

We present a case of Mucopolysaccharidosis Type II (Hunter’s syndrome) with typical presentation of a boy with mental retardation, clear corneas, limited language skills, coarse facial features and radiological features. The purpose of reporting this case is to highlight the characteristic features of Mucopolysaccharidosis Type II (Hunter s syndrome) as it is a rare one. Based on clinical features and radiological findings he was diagnosed as Hunter s syndrome. However diagnosis can only be confirmed by enzymatic analysis, a facility which is unavailable in most centers.

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