Journal
PEDIATRIC NEUROLOGY
Volume 45, Issue 1, Pages 57-59Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2011.02.003
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Funding
- NINDS NIH HHS [K08 NS060695, K08 NS060695-02] Funding Source: Medline
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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 E1 alpha subunit, associated with mutations in the PDHA1 gene. In this report, we submit detailed magnetic resonance images in 4 affected female patients with PDHA1 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 E1 alpha in female patients and should trigger appropriate diagnostic investigations. Published by Elsevier Inc.
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