An autopsy is being performed on a 4-year-old boy who recently died from a myocardial infarction. The child had a history of intellectual disability. Autopsy shows a prominent forehead and broad nose. There is a diffuse haze over the corneas bilaterally. The heart, liver, and spleen are enlarged. Sampling of the coronary arteries is most likely to reveal intimal accumulation of which of the following substances?

Question

An autopsy is being performed on a 4-year-old boy who recently died from a myocardial infarction.  The child had a history of intellectual disability.  Autopsy shows a prominent forehead and broad nose.  There is a diffuse haze over the corneas bilaterally.  The heart, liver, and spleen are enlarged.  Sampling of the coronary arteries is most likely to reveal intimal accumulation of which of the following substances?

Quizplus · Accepted Answer

Eductional Objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate.  Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly.  Early death due to cardiac complications (eg, myocardial infarction) is expected.

An Autopsy Is Being Performed on a 4-Year-Old Boy Who