Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2011 Jul;45(1):57-9.
doi: 10.1016/j.pediatrneurol.2011.02.003.

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

Nicholas Ah Mew  1 , Johanna B Loewenstein, Nadja Kadom, Uta Lichter-Konecki, Andrea L Gropman, Jodie M Martin, Adeline Vanderver
Affiliations
Case Reports

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

Nicholas Ah Mew et al. Pediatr Neurol. 2011 Jul.

Abstract

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1. MRI characteristics in 4 female patients with PDHA1 deficiency
Columns show patients 1, 2, 3, and 4 imaged at 4 months, 5 months, 1 day, and 11 months, respectively. Rows: A, sagittal midline T1-weighted images; B, axial T2-weighted images at the level of lateral ventricles; C, coronal T2-weighted images through the hippocampi. Note the incomplete corpus callosum in all patients (Row A, short white arrows). All patients had asymmetrical ventriculomegaly (Row B, stars) with a normal 4th ventricle (Row A, stars). A small pons (Row A, long white arrows) can be seen. Ventricular septations were seen in 3/4 patients (row B, patients 1,2 and 4, black arrows) or parenchymal cysts in 1/4 patients (row B, patient 3, black arrow). Patients 1,2 and 4 displayed hyporotated hippocampi (row C, arrows).
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Dahl HH. Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again. Am J Hum Genet. 1995;56:553–557. - PMC - PubMed
    1. Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A. Mutations in the x-linked pyruvate dehydrogenase (e1) alpha subunit gene (pdha1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat. 2000;15:209–219. - PubMed
    1. De Meirleir L. Defects of pyruvate metabolism and the Krebs cycle. J Child Neurol. 2002;17(Suppl 3):3S26–33. discussion 23S33-24. - PubMed
    1. Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH. Mutations in the x-linked e1 alpha subunit of pyruvate dehydrogenase: Exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Am J Hum Genet. 1995;56:558–569. - PMC - PubMed
    1. Knaap MSvd, Valk J, Barkhof F. Magnetic resonance of myelination and myelin disorders. 3. Chapter 28. Berlin; New York: Springer; 2005. pp. 228–230.

Publication types

MeSH terms

Substances