Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation. Issue 9 (30th August 2021)

• Record Type: Journal Article
• Authors: Vafaee‐Shahi, Mohammad; Ghasemi, Saeide; Beiraghi Toosi, Mehran; Ashrafi, Mahmoud Reza; Badv, Reza Shervin; Tavasoli, Ali Reza; Tahernia, Leila
• Is Part Of: Clinical case reports. Volume 9:Issue 9(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-08-30
• Subjects: gaze palsy -- lactate -- Leigh syndrome -- mitochondria -- NDUFS4 gene; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.4748
• Languages: English
• ISSNs: 2050-0904

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. 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.