MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency

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• 作者：Nicholas Ah Mew MD^a ; Johanna B. Loewenstein MGC^b ; Nadja Kadom MD^c ; Uta Lichter-Konecki MD PhD^a ; Andrea L. Gropman MD^b ; Jodie M. Martin MGC^b ; Adeline Vanderver MD^b ; ^{avanderv@cnmc.org"" rel=""nofollow}
• 刊名：Pediatric Neurology
• 出版年：2011
• 出版时间：July 2011
• 年：2011
• 卷：45
• 期：1
• 页码：57-59
• 全文大小：389 K

文摘

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.