Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

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.

Keywords: FOXG1 syndrome; MRI; PDHC deficiency; phenotype.