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Bilateral horizontal gaze palsy in an 8-year-old girl; rare case with NDUFS4 gene mutation: a case report and literature review
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  • Mohammad Vafaee Shahi,
  • Saeide Ghasemi,
  • Mehran Beiraghi Toosi,
  • Mahmoud Reza Ashrafi,
  • Reza Shervin Badv,
  • Alireza Tavasoli,
  • Leila Tahernia
Mohammad Vafaee Shahi
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Saeide Ghasemi
Iran University of Medical Sciences
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Mehran Beiraghi Toosi
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Mahmoud Reza Ashrafi
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Reza Shervin Badv
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Alireza Tavasoli
Natl Inst Genet Engn
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Leila Tahernia
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Abstract

Here, an 8-year-old girl is reported with bilateral horizontal gaze palsy, ataxia and drowsiness. Brain MRI demonstrated dorsal midbrain, bilateral putamen nuclei and cerebellar dentate nucleus involvement. MRS revealed an elevated lactate peak which suggested a mitochondrial disease. Finally, the molecular genetic test reported NDUFS4 gene mutation

Peer review status:UNDER REVIEW

30 Jul 2020Submitted to Clinical Case Reports
10 Aug 2020Submission Checks Completed
10 Aug 2020Assigned to Editor
13 Aug 2020Reviewer(s) Assigned
05 Nov 2020Review(s) Completed, Editorial Evaluation Pending
06 Dec 2020Editorial Decision: Revise Minor
09 Apr 20211st Revision Received
15 Apr 2021Submission Checks Completed
15 Apr 2021Assigned to Editor
15 Apr 2021Review(s) Completed, Editorial Evaluation Pending
25 Apr 2021Editorial Decision: Revise Minor
25 Jun 20212nd Revision Received
26 Jun 2021Submission Checks Completed
26 Jun 2021Assigned to Editor
28 Jun 2021Review(s) Completed, Editorial Evaluation Pending