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Cerebrum atrophy and delayed myelination in the corpus callosum splenium in Menkes disease (T2 MRI)

T2-weighted MR imaging shows diffuse atrophy of the cerebrum and delayed myelination in the splenium of the corpus callosum in a female infant with Menkes disease due to unfavorable switching of skewed X chromosome inactivation. (Source: Matsumoto A, Kano S, Kobayashi N, et al. Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant. Sci Rep 2024;14[1]:440. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

Associated Disorders

  • Distal motor neuropathy
  • Occipital horn syndrome