Last Updated on February 27, 2019 by SDN Staff
A 14-year-old boy is brought to the pediatrician by his mother over concerns of difficulty walking and worsening clumsiness. He reports a gradual loss of night vision, and a long history of chronic diarrhea which is pale and foul-smelling. Examination reveals an ataxic gait, and loss of deep tendon reflexes. Bilateral retinitis pigmentosa is noted on fundoscopy and a peripheral blood smear reveals the findings seen here. Which additional laboratory finding is most likely?
A. Low total cholesterol level
B. Elevated calcium level
C. Low vitamin B12 level
D. Elevated alpha-tocopherol level
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