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Review Question - QID 213646

Lysosome Lysosomal Storage Disease (by Deficient Enzymes) Sphingolipidoses QID: 213646 (M1.OMB.19.4800)
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QID 213646 (Type "213646" in App Search)
A 3-month-old boy is brought to the pediatrician by his parents, who have been concerned about their son’s irritability, feeding difficulties, and frequent episodes of spasticity. Physical examination reveals stunted growth, developmental delay, and hyperreflexia. An ophthalmologist performs a fundus examination, which reveals thinning of the nerve fiber layer of the retina. A pediatric neurology consult is called, and the diagnosis of a genetic neurological disorder is confirmed by an enzymatic study noting a deficiency of galactocerebrosidase. Which of the following is the most likely diagnosis for this patient?
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