Mucopolysaccharidosis type I: Hurler syndrome and Scheie syndrome

Mucopolysaccharidosis type 1 (MPS I) is a rare autosomal recessive lysosomal storage disorder. The phenotypic spectrum of MPS I is remarkably broad, and varies from the severe Hurler phenotype to the attenuated Scheie phenotype. Early detection of MPS I is very important, as the success of treatment (hematopoietic stemcell transplantation in the Hurler phenotype and enzyme replacement therapy for the Scheie phenotype) largely depends on the early initiation of therapy. Characteristic features of MPS I are: (recurrent) inguinal and umblilical hernia, recurrent upper respiratory tract infections, thoracolumbar kyphosis, obstructive sleep apneas, restricted joint mobility and corneal clouding. This disorder will be illustrated by presenting two case histories.