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Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
  • +4
  • Yuichi Akaba,
  • Satoru Takahashi,
  • Ryo Takeguchi,
  • Ryosuke Tanaka,
  • Shin Nabatame,
  • Hirotomo Saitsu,
  • Naomichi Matsumoto
Yuichi Akaba
Asahikawa Medical University
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Satoru Takahashi
Asahikawa Medical University
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Ryo Takeguchi
Asahikawa Medical University
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Ryosuke Tanaka
Asahikawa Medical University
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Shin Nabatame
Osaka University School of Medicine Graduate School of Medicine
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Hirotomo Saitsu
Hamamatsu University School of Medicine
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Naomichi Matsumoto
Yokohama City University Graduate School of Medicine
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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.

Peer review status:POSTED

11 Sep 2020Submitted to Clinical Case Reports
12 Sep 2020Assigned to Editor
12 Sep 2020Submission Checks Completed