Leukodystrophy Quiz: Ace Your Exams
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A 1-year-old boy is brought to the clinic for evaluation of developmental regression and “odd appearance” of his eyes. His parents state he was able to sit up on his own without support until a month ago, when they noticed that he could no longer sit up or roll over. Additionally, his parents state he has had recurrent respiratory infections, and they now notice a chronic nasal discharge. His birth was unremarkable. Vitals are within normal limits. Physical examination reveals a prominent forehead, flat nose bridge and enlarged lips, gums and tongue. Abdominal examination reveals hepatosplenomegaly and an umbilical hernia. Ophthalmic examination is shown below:

Reproduced from Wikipedia
Accumulation of which of the following metabolites is most likely present in this patient’s tissues?

Reproduced from Wikipedia
Accumulation of which of the following metabolites is most likely present in this patient’s tissues?
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