期刊
NEUROLOGY
卷 87, 期 10, 页码 1062-1063出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000003066
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A 27-year-old man had been diagnosed with ataxia-telangiectasia at age 13 years. He had ocular telangiectasia and motor ataxia, with incoordination of head and eyes in lateral gaze. Laboratory data revealed deficiency of immunoglobulin and elevated -fetoprotein. MRI demonstrated cerebellar atrophy and cerebral microbleeds(1) (figure 1); the dentate nuclei had deficient iron signals, which otherwise should be visible as hypointensities in susceptibility-weighted imaging (figure 2). Iron depletion in dentate nuclei is a novel finding and could be explained by the blockage of axonal iron transport in the olivocerebello-olivary loop.(2
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