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An Illustrated Guide To Vet Med Term

An Illustrated Guide To Vet Med Term

4th Edition

ISBN:9781305465763

Author:ROMICH

Publisher:ROMICH

Chapter22: Birds Of A Feather

Section: Chapter Questions

Problem 1.1CS

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A 6 month old infant with progressive failure
to thrive and milestone regression is being
evaluated for an inborn error of metabolism.
On examination, hypotonia, apathy, deafness,
hepatosplenomegaly and generalised
lymphadenopathy are present. Fundus
examination shows cherry red spot. A liver
biopsy shows foamy hepatocytes loaded
with sphingomyelin. Electron microscopy
reveals zebra body. What is the diagnosis?
please explain.

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