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Old 11-07-2012
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Question Child with Burning Pain, Rash, and GI symptoms!

A 5 yr old boy present with extremity burning pain, tiny, painless papules predominant on the thighs, around the belly-button, buttocks, lower abdomen, and groin. abnormal sweating, exercise intolerance and easy fatigability, abdominal cramping, vomiting, nausea, and food intolerance. He also has Family history of kidney failure, heart disease, stroke. Which one of the following is likely to be increased in this patient:

A. glucosylceramide
B. ganglioside
C. Sphingomyelin
D. ceramide trihexoside
E. McBurger
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Last edited by Novobiocin; 11-07-2012 at 07:54 PM.
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Old 11-07-2012
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Good Question Novo..

Answer > Ceramide trihexoside ? - Fabries disease..

Deficiency of alpha galactosidase...

Presents with Angiokeratoma, systemic manifestation, peripheral neuropathy
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Old 11-08-2012
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This is Fabry's disease - ceramide trihexoside accumulation

case describes anhydraosis, angiokeratomas, and acroparathesesia
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Old 11-08-2012
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Fabry disease the neuropathy is classic
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