Recessive PDHB mutation causes pyruvate dehydrogenase complex (PDC) deficiencies with severe clinical consequences that primarily affect the nervous system, such as developmental delay, seizures, central hypotonia, ataxia, peripheral neuropathy, microcephaly, congenital brain malformations, and degenerative changes, such as Leigh syndrome [14, 21, 22]. Here, PDHB is linked to cerebral malformation.