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. We...

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Bibliographic Details
Published inClinical case reports Vol. 9; no. 9; pp. e04748 - n/a
Main Authors Vafaee‐Shahi, Mohammad, Ghasemi, Saeide, Beiraghi Toosi, Mehran, Ashrafi, Mahmoud Reza, Badv, Reza Shervin, Tavasoli, Ali Reza, Tahernia, Leila
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.09.2021
John Wiley and Sons Inc
Wiley
Subjects
Ataxia
Case Report
Case reports
Dehydrogenases
Disease
Gait
gaze palsy
Genes
Laboratories
lactate
Leigh syndrome
Magnetic resonance imaging
Metabolism
mitochondria
Mutation
NDUFS4 gene
Spectrum analysis
Leigh syndrome
gaze palsy
lactate
NDUFS4 gene
mitochondria
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Summary: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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.4748