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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 2020Assigned to Editor
10 Aug 2020Submission Checks Completed
13 Aug 2020Reviewer(s) Assigned