Clinical presentation and diagnosis of mucopolysaccharidosis type 2 (Hunter syndrome).

+Pg Resident, *Head of unit, **assistant Professor, Dept. of Medicine, grant Medical College and sir J.J. group of Hospitals, Mumbai. Received: 01.10.2011; Revised: 16.07.2012; Re-revised: 03.12.2012; accepted: 11.01.2013 Abstract Introduction : We present a very rare case of mucopolysaccharidosis type II (Hunter syndrome). which presented as short stature, coarse facies, mild mental retardation with no corneal clouding and repeated upper respiratory tract infections. the purpose of presenting this case is to highlight the clinical manifestations specific to mucopolysaccharidosis type II (Hunter syndrome). Case Presentation : a 20-years-old Indian male presented with short stature, coarse facial features, protruded abdomen with umbilical hernia with history of bilateral ear discharge. there was mild mental retardation and body joints were in flexed posture. Based on clinical presentation possibility of mucopolysaccharidosis is kept and based on 24 hr total urinary excretion of glycosaminoglycans (21.9 mg/mmolcreat; normal<8 mg/mmolcreat.), genotype analysis (revealing mutation p.asp198ala in exon 5 of Iduronidase 2 sulfatase gene), we diagnosed type 2 mucopolysaccharidosis (Hunter syndrome). We refered him to higher centre for enzyme replacement therapy. Conclusion : Based on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis.24 hrs urinary glycosaminoglycans estimation and genetic studies confirms the diagnosis and its type, which will help in offering enzyme replacement therapy to the given individual.