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Fumarase deficiency (MRI findings)

Axial T2-weighted (A and B) and coronal (C) and sagittal (D) T1-weighted MR images demonstrating enlargement of the ventricles with cortical atrophy, diffuse hypomyelination, and a thin corpus callosum. (Modified with permission: Narayanan V, Diven W, Ahdab-Barmada M. Congenital fumarase deficiency presenting with hypotonia and areflexia. J Child Neurol 1996;11:252-5.)

Associated Disorders

  • Dystonia
  • Infantile spasms