DOI: 10.36347/sjmcr.2015.v03i07.003

Pages: 568-570

Hurler’s syndrome is a rare lysosomal storage disorder caused by deficiency of lysosomal enzyme αl-iduronidase and has an autosomal recessive inheritance. Mucopolysaccharidosis-1(MPS1) is classified into mild (Scheie syndrome), intermediate (Hurler- Scheie syndrome), severe (Hurler syndrome). We are reporting a case of Hurler’s syndrome which affected a male child of 13 years. The child has αl-iduronidase enzyme deficiency which in turn leads to deposition of dermatan and heparan sulphate in multiple tissues leading to progressive deterioration.