Abstract
The nucleus-encoded mitochondrial pyruvate dehydrogenase enzyme complex plays key roles in cellular energy metabolism and acid-base equilibrium. Pyruvate dehydrogenase complex deficiency is due to loss-of-function mutation in one of the five component enzymes, most commonly E1α-subunit. The common clinical presentation ranges from fatal infantile lactic acidosis in newborns to chronic neurological dysfunction. We describe here an unusual presentation of E1α-subunit deficiency presenting as recurrent demyelination, Guillain-Barré syndrome-like demyelinating polyneuropathy at the onset, and ophthalmoplegia in a young infant. The clinical phenotype of the mutation in the patient was unique as compared to the previous reported cases of pyruvate dehydrogenase deficiency. The mother was found to be a mosaic carrier of the mutation. This phenotypic variability of pyruvate dehydrogenase complex deficiency and early suspicion of its unusual neurological manifestations is highlighted. Thiamine and ketogenic diet can be helpful.
Competing interests: None declared
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Communicated by: Shamima Rahman
Appendices
Take-Home Message
PDH deficiency should be considered in patients with unexplained recurrent acute neurological symptoms with lactic acidemia.
Author Contribution
Pratibha Singhi is clinician-in-charge, reviewed neuroradiology and electrophysiological data, and also reviewed the manuscript; Linda De Meirleir helped in the diagnosis and genetic studies; Willy Lissens helped in mutational analysis; Sunit Singhi is clinician-in-charge of pediatric intensive care; and Arushi Gahlot Saini helped in patient management, draft of manuscript, and literature search.
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Dr P Singhi (corresponding author)
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Manuscript is a retrospective case report that does not require ethics committee approval at the institution.
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Singhi, P., De Meirleir, L., Lissens, W., Singhi, S., Saini, A.G. (2012). Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 10. JIMD Reports, vol 10. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_211
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DOI: https://doi.org/10.1007/8904_2012_211
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