Pyruvate Dehydrogenase-E1a Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation

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 E1?-subunit. The common clinical presentation ranges from fatal infantile lactic acidosis in newborns to chronic neurological dysfunction. We describe here an unusual presentation of E1?-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.

Jaar van publicatie:2013

Trefwoorden:PDH, Pyruvate Dehydrogenase-E1a Deficiency