Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

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.

Detalles Bibliográficos
Autores principales: Akaba, Yuichi, Takahashi, Satoru, Takeguchi, Ryo, Tanaka, Ryosuke, Nabatame, Shin, Saitsu, Hirotomo, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981633/
https://www.ncbi.nlm.nih.gov/pubmed/33768920
http://dx.doi.org/10.1002/ccr3.3883
Descripción
Sumario: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.

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