Hurler's syndrome picture
Hurler syndrome is an autosomal recessive lysosomal storage disorder affecting
mucopolysaccharide metabolism, the underlying defect being a deficiency of
alpha-L-iduronidase. Hurler syndrome is also called gargoylism.
The patient presents before the age of 2 with coarse facial features and mild
developmental delay. The child's development ceases and a gradual intellectual decline
occurs with death in the second decade.
Picture of child with Hurler's syndrome |
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