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Leukencephalopathy in a patient with SDHAF1-related complex II deficiency

Cranial MRI of a 9-year-old boy with an SDHAF1 mutation (c.22C > T p.Gln8X) who presented with spasticity and clumsiness at age 20 months. Axial T2-weighted (A-C) and coronal FLAIR-weighted (D) images show widespread bilateral T2-hyperintensities in the cerebral periventricular white matter. Involvement of the pons (C, full white arrow) and cystic lesions in the periventricular white matter (D, open arrow) are evident. Peripheral U-fibers are spared. These abnormalities were largely unchanged from those on neuroimaging at age 4 years. (Ohlenbusch et al 2012; Creative Commons Attribution License.)

Associated Disorders

  • Cardiomyopathy
  • Kearns-Sayre syndrome
  • Late-onset progressive neurodegeneration
  • Leigh disease
  • Seizures