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An 8-Month-Old Infant Is Brought to His Pediatrician Because He

Question 6

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An 8-month-old infant is brought to his pediatrician because he has had difficulty in feeding and frequently vomits following feedings. The parents indicate that their son had been able to sit by himself but now is incapable of doing so. Upon examination the doctor notes that the infant has obvious hepatosplenomegaly and is emaciated. Additional physical signs include thin limbs. Examination of his eyes reveals a cherry-red spot in the central part of the retina. Analysis of monocytes indicates the presence of sphingomyelin-rich lipids. The clinical findings in this infant indicate he is suffering from which of the following disorders?


A) fucosidosis
B) Gaucher disease
C) GM2 activator deficiency
D) Niemann-Pick disease type A1
E) Tay-Sachs disease

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