MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.

[pyruvate dehydrogenase deficiency]

Pyruvate dehydrogenase complex is a key intramitochondrial multienzyme complex required for the conversion of pyruvate to acetyl-CoA . Most patients with pyruvate dehydrogenase deficiency have a defect in the E 1 alpha subunit , associated with mutations in the PDHA 1 gene . In this report , we submit detailed magnetic resonance images in 4 affected female patients with PDHA 1 mutations who had with severe cortical atrophy , dilated ventricles , and an incomplete corpus callosum . In one of these patients , the magnetic resonance imaging pattern prompted molecular diagnostic testing when enzymatic testing was normal . We underscore that this constellation of features , which may be misdiagnosed as periventricular leukomalacia , illustrates a pattern highly suggestive of a deficiency of pyruvate dehydrogenase E 1 alpha in female patients and should trigger appropriate diagnostic investigations .