Publication:

Hurler syndrome-a case report of infrequently encountered diagnosis

Hurler syndrome also known as mucopolysaccharidosis type 1H (MPS-1H) or gargoylism is an autosomal recessive disorder due to defective gene which encodes for enzyme alpha L-iduronidase (IUDA) located on chromosome 4p16.3 (gene encoding protein iduronidase). In the present case, 4-year Down’s syndrome child with coarse facial features, hypothyroidism presented with umbilical hernia. Clinical diagnosis of Hurler syndrome was made corelating with clinical features, X-ray findings.