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

Mohammad Vafaee-ShahiSaeide GhasemiMehran Beiraghi ToosiMahmoud Reza AshrafiReza Shervin BadvAli Reza TavasoliLeila Tahernia

Published in: Clinical case reports (2021)

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.

Keyphrases

case report
rare case
genome wide
copy number
single cell
brain injury