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A 10-day-old neonate presented with vomiting and irritability. Diffusion-weighted imaging showed abnormal signal intensities, including characteristic involvement of the optic pathway (Figure, A and B). Maple syrup urine disease (MSUD)… Click to show full abstract
A 10-day-old neonate presented with vomiting and irritability. Diffusion-weighted imaging showed abnormal signal intensities, including characteristic involvement of the optic pathway (Figure, A and B). Maple syrup urine disease (MSUD) was suspected. Blood tests confirmed elevated levels of branched-chain amino acids (BCAAs)—leucine, isoleucine, and valine.
Keywords:
maple syrup;
optic pathway;
involvement;
syrup urine;
urine disease
Journal Title: Neurology
Year Published: 2022
Link to full text (if available)
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Journal Title: Neurology
Year Published: 2022
Link to full text (if available)
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recommendations!