Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation

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.

Detalles Bibliográficos
Autores principales: Vafaee‐Shahi, Mohammad, Ghasemi, Saeide, Beiraghi Toosi, Mehran, Ashrafi, Mahmoud Reza, Badv, Reza Shervin, Tavasoli, Ali Reza, Tahernia, Leila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8405526/
https://www.ncbi.nlm.nih.gov/pubmed/34484776
http://dx.doi.org/10.1002/ccr3.4748
_version_ 1783746354107908096
author Vafaee‐Shahi, Mohammad
Ghasemi, Saeide
Beiraghi Toosi, Mehran
Ashrafi, Mahmoud Reza
Badv, Reza Shervin
Tavasoli, Ali Reza
Tahernia, Leila
author_facet Vafaee‐Shahi, Mohammad
Ghasemi, Saeide
Beiraghi Toosi, Mehran
Ashrafi, Mahmoud Reza
Badv, Reza Shervin
Tavasoli, Ali Reza
Tahernia, Leila
author_sort Vafaee‐Shahi, Mohammad
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8405526
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-84055262021-09-03 Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation Vafaee‐Shahi, Mohammad Ghasemi, Saeide Beiraghi Toosi, Mehran Ashrafi, Mahmoud Reza Badv, Reza Shervin Tavasoli, Ali Reza Tahernia, Leila Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2021-08-30 /pmc/articles/PMC8405526/ /pubmed/34484776 http://dx.doi.org/10.1002/ccr3.4748 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Vafaee‐Shahi, Mohammad
Ghasemi, Saeide
Beiraghi Toosi, Mehran
Ashrafi, Mahmoud Reza
Badv, Reza Shervin
Tavasoli, Ali Reza
Tahernia, Leila
Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation
title Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation
title_full Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation
title_fullStr Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation
title_full_unstemmed Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation
title_short Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation
title_sort bilateral horizontal gaze palsy in an 8‐year‐old girl: a rare case with ndufs4 gene mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8405526/
https://www.ncbi.nlm.nih.gov/pubmed/34484776
http://dx.doi.org/10.1002/ccr3.4748
work_keys_str_mv AT vafaeeshahimohammad bilateralhorizontalgazepalsyinan8yearoldgirlararecasewithndufs4genemutation
AT ghasemisaeide bilateralhorizontalgazepalsyinan8yearoldgirlararecasewithndufs4genemutation
AT beiraghitoosimehran bilateralhorizontalgazepalsyinan8yearoldgirlararecasewithndufs4genemutation
AT ashrafimahmoudreza bilateralhorizontalgazepalsyinan8yearoldgirlararecasewithndufs4genemutation
AT badvrezashervin bilateralhorizontalgazepalsyinan8yearoldgirlararecasewithndufs4genemutation
AT tavasolialireza bilateralhorizontalgazepalsyinan8yearoldgirlararecasewithndufs4genemutation
AT tahernialeila bilateralhorizontalgazepalsyinan8yearoldgirlararecasewithndufs4genemutation

Ejemplares similares