Clinical Presentation of Mucopolysaccharidosis Type II (Hunter’s Syndrome)

Abstract

We present a very rare case of mucopolysaccharidosis with atypical presentation such as severe mental retardation, dolicocephalic head, a coarse facial features, no corneal clouding with inguinal hernia. The purpose of presenting this case is to highlight the distinctive manifestation of Hunter Syndrome. Based on thorough clinical examination and radiological survey it is possible to diagnose a case of mucopolysaccharidosis. Multidisciplinary approach will go a long way to manage the patient holistically.