Discussion :
This child has corneal clouding, abdominal distension (more in upper quadrant suggestive of organomegaly), umbilical hernia, short stature and coarse features suggestive of MPS. This child has Hurler syndrome.
Hurler syndrome is inherited as an autosomal recessive trait. The metabolic defect that causes Hurler syndrome is the body's inability to make an enzyme called lysosomal alpha-L-iduronate. Treatment consists of enzyme replacement or bone marrow transplant. |
| Correct Answers : |  13% |
Last Shown : Feb 2005
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