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

Abstract

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.

Keywords

• gaze palsy
• lactate
• Leigh syndrome
• mitochondria
• NDUFS4 gene