Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

Yuichi Akaba; Satoru Takahashi; Ryo Takeguchi; Ryosuke Tanaka; Shin Nabatame; Hirotomo Saitsu; Naomichi Matsumoto

doi:10.22541/au.160010831.19547753

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Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

Yuichi Akaba,
Satoru Takahashi,
Ryo Takeguchi,
Ryosuke Tanaka,
Shin Nabatame,
Hirotomo Saitsu,
Naomichi Matsumoto

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.

11 Sep 2020Submitted to Clinical Case Reports

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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 2020Assigned to Editor

14 Dec 2020Submission Checks Completed

14 Dec 2020Review(s) Completed, Editorial Evaluation Pending

11 Jan 2021Editorial Decision: Revise Minor

13 Jan 20212nd Revision Received

13 Jan 2021Assigned to Editor

13 Jan 2021Submission Checks Completed

13 Jan 2021Review(s) Completed, Editorial Evaluation Pending

20 Jan 2021Editorial Decision: Accept

Abstract

Peer review status:ACCEPTED