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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:ACCEPTED

11 Sep 2020Submitted to Clinical Case Reports
12 Sep 2020Submission Checks Completed
12 Sep 2020Assigned to Editor
03 Oct 2020Reviewer(s) Assigned
21 Oct 2020Review(s) Completed, Editorial Evaluation Pending
07 Dec 2020Editorial Decision: Revise Minor
12 Dec 20201st Revision Received
14 Dec 2020Submission Checks Completed
14 Dec 2020Assigned to Editor
14 Dec 2020Review(s) Completed, Editorial Evaluation Pending
11 Jan 2021Editorial Decision: Revise Minor
13 Jan 20212nd Revision Received
13 Jan 2021Submission Checks Completed
13 Jan 2021Assigned to Editor
13 Jan 2021Review(s) Completed, Editorial Evaluation Pending
20 Jan 2021Editorial Decision: Accept