Q LM-04: About a baby with hypertriglyceridemia


 

Question about Lipid Metabolism (LM-04)

 

 

 

                                          

  

 

An adopted baby boy, (approximately 6-month-old), whose family history is unknown,  presents with dark greenish colored stools and excessive crying for four days. A physical examination of the child revealed a pallor skin with an enlarged liver and enlarged spleen.

 

Blood test reveals a lactescent  plasma and a lipid profile showed very high levels of triglycerides (2 500 mg/dL}. Lipoprotein electrophoresis demonstrated an abnormal extensive band of chylomicrons.   

 

Based in the information above, the most likely diagnosis for this patient is:

 

a)     Lipoprotein Lipase Deficiency

 

b)     Familial defective Apoprotein B

 

c)      Abetalipoproteinemia

 

d)     Sphingolipidosis

 

e)     Familial hypercholesterolemia

 

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