Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation

Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation Publisher

Vafaeeshahi M¹ ; Ghasemi S² ; Beiraghi Toosi M³ ; Ashrafi MR⁴ ; Badv RS⁴ ; Tavasoli AR⁴ ; Tahernia L⁵

Show Affiliations

1. Pediatric Neurology Department, Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran
2. Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
3. Pediatric Neurology Department, Pediatric Ward, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
4. Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
5. Pediatric Intensive care department, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran

Source: Clinical Case Reports Published:2021

Abstract

We report a patient with complex clinical presentation including multiple neurological symptoms and eye involvement. Upon genetic investigation, the patient was found to carry a novel homozygous mutation in the NDUFS4 gene, thus adding to the heterogeneity of Leigh syndrome clinical presentation. © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Style	Citing Format
MLA	Vafaeeshahi M, et al.. "Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation." Clinical Case Reports, vol. 9, no. 9, 2021, pp. -.
APA	Vafaeeshahi M, Ghasemi S, Beiraghi Toosi M, Ashrafi MR, Badv RS, Tavasoli AR, Tahernia L (2021). Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation. Clinical Case Reports, 9(9), -.
Chicago	Vafaeeshahi M, Ghasemi S, Beiraghi Toosi M, Ashrafi MR, Badv RS, Tavasoli AR, Tahernia L. "Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation." Clinical Case Reports 9, no. 9 (2021): -.
Harvard	Vafaeeshahi M et al. (2021) 'Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation', Clinical Case Reports, 9(9), pp. -.
Vancouver	Vafaeeshahi M, Ghasemi S, Beiraghi Toosi M, Ashrafi MR, Badv RS, Tavasoli AR, et al.. Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation. Clinical Case Reports. 2021;9(9):-.
BibTex	@article{ author = {Vafaeeshahi M and Ghasemi S and Beiraghi Toosi M and Ashrafi MR and Badv RS and Tavasoli AR and Tahernia L}, title = {Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation}, journal = {Clinical Case Reports}, volume = {9}, number = {9}, pages = {-}, year = {2021} }
RIS	TY - JOUR AU - Vafaeeshahi M AU - Ghasemi S AU - Beiraghi Toosi M AU - Ashrafi MR AU - Badv RS AU - Tavasoli AR AU - Tahernia L TI - Bilateral Horizontal Gaze Palsy in an 8-Year-Old Girl: A Rare Case With Ndufs4 Gene Mutation JO - Clinical Case Reports VL - 9 IS - 9 SP - EP - PY - 2021 ER -

Science Communicator Platform

Authors

Authors Affiliations

Abstract