asmi
Forum Hero
Topics: 1043
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A 7 months old boy was brought to the paediatrician .He is small,thin,lethargic ,has coarse features .Joint movt. are restricted, his cornea are clouded ,gums are underdeveloped .His liver is not enlarged .Serum levels of acid hydrolases are raised.What is the disease and where is the defect ?
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| smarandi
Forum Newbie
Topics: 5
Posts: 26
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Hunter's syndrome. iduronate sulfatase deficiency
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| smarandi
Forum Newbie
Topics: 5
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woops Imade a mistake I think it is a hurler's dis. alpa-l- iduronidase deficiency.
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| asmi
Forum Hero
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its I cell disease .
We have to be careful in such clinical senario.The only hint was elevated acid hydrolases and coarse features .
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| krsma
Forum Elite
Topics: 40
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also just to add:
Hunter's and Hurler = both can present w/ Hepatosplenomegaly ( not in I-cell)
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| black_tulip
Forum Senior
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I agree with asmi, I-cell disease.
The key hint is increase of "Serum levels of acid hydrolases"
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| usmleasr
Forum Guru
Topics: 105
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good q thanks asmi
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