mahendra
Forum Guru
Topics: 173
Posts: 419
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A 2-year-old retarded child is evaluated by a metabolic
specialist. The child's history is significant for failure to
thrive and progressive neurologic deterioration, including deafness
and blindness. Physical examination is remarkable for hepatosplenomegaly
, as well as a cherry-red spot on funduscopic examination. These symptoms
are consistent with a diagnosis of
A. Hunter syndrome
B. Niemann-Pick disease
C. Pompe's disease
D. tyrosinosis
E. von Gierke's disease
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| meg
Forum Guru
Topics: 62
Posts: 806
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cherry red+ hepatomegaly :arrow: neiman pick
cherry red without hepatomegaly :arrow: tay sacs
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| asmi
Forum Hero
Topics: 1043
Posts: 4,609
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sounds like tay sach's to me
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| asmi
Forum Hero
Topics: 1043
Posts: 4,609
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got it!
thanks 
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| zaki
Forum Guru
Topics: 92
Posts: 398
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agrees with meg B. Niemann-Pick disease
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Maverick
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| alice8
Forum Guru
Topics: 37
Posts: 643
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B. Niemann-Pick disease
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Dream on 'til your dream comes true.
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