Bela
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6 mo old boy born to first cousins. He’s small, thin, lethargic infant w/ slightly misshapen long bones. Features are somewhat coarse. Joint movements are restricted, his corneas clouded and his gums are underdeveloped. Liver is not enlarged. Acid hydrolase levels are elevated. Dx? Defect occurs in?
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| PsychDr2B
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My original answer was Hurler's (MPS I H) (but it has hepatomegaly)
Also Scheie's (MPS I S), which is allelic disorder with Hurler's having alpha-L-Iuronidase deficiency
Morquio's syndrome type B (MPS IV B) has less visceral involvmenet but maintains features described in your question stem
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| Bela
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U're right about the family (mucolipidosis) but not right disease.
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| mash
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scheie's syndrome (MPS-I S)
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| mash
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scheie's syndrome (MPS-I S)
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| Bela
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Actually it's I cell disease (mucolipidosis II).
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| mash
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#-o
i read i cell ds y'day only......how cud i forget it.
anyway thanx bela!
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| PsychDr2B
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Great question Bela, kind of tricky, thanx for pointing out
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