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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.

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.

Biochemistry
Biochemistry
9th Edition
ISBN:9781319114671
Author:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Publisher:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Chapter1: Biochemistry: An Evolving Science
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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.
Transcribed Image Text: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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