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1. Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.

Author

Akaba Y, Takahashi S, Takeguchi R, Tanaka R, Nabatame S, Saitsu H, and Matsumoto N

Abstract

Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these disorders., Competing Interests: None declared., (© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

Published
2021
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