A 6-month-old baby is being tested for an inborn metabolic defect after experiencing escalating failure to thrive and milestone regression. Hypotonia, apathy, deafness, hepatosplenomegaly, and widespread lymphadenopathy are all apparent on examination. An inspection of the fundus reveals a cherry red patch. A liver biopsy reveals sphingomyelin-loaded foamy hepatocytes. The body of a zebra may be seen via electron microscopy. What is your prognosis? Please elaborate.
A 6-month-old baby is being tested for an inborn metabolic defect after experiencing escalating failure to thrive and milestone regression. Hypotonia, apathy, deafness, hepatosplenomegaly, and widespread lymphadenopathy are all apparent on examination. An inspection of the fundus reveals a cherry red patch. A liver biopsy reveals sphingomyelin-loaded foamy hepatocytes. The body of a zebra may be seen via electron microscopy. What is your prognosis? Please elaborate.
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
Section: Chapter Questions
Problem 1P
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A 6-month-old baby is being tested for an inborn
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