Convergence-Retraction Nystagmus and Ophthalmoplegia as the Presenting Sign of Leigh Syndrome in a Young Boy

Update Item Information
Title Convergence-Retraction Nystagmus and Ophthalmoplegia as the Presenting Sign of Leigh Syndrome in a Young Boy
Creator W. Chen; C. Feny; S. Chu; G. Zhao; X. Sun; Z. Li; Q. Chen; G. Tian
Affiliation Department of Neurology (WC), Shanghai Deji Hospital, Shanghai, China; Department of Ophthalmology (CF, XS, QC, GT), Eye and ENT Hospital, Fudan University, Shanghai, China; Department of Radiology (SC), Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China; Department of Neurology (GZ, ZL), Hua Shan Hospital, Shanghai Medical College, Fudan University, Shanghai, China; and NHC Key Laboratory of Myopia (Fudan University) (XS,GT), Key Laboratory of Visual Impairment and Restoration, Shanghai, China
Abstract A 6-year-old boy complained of droopy eyelids and double vision for 2 months. There was no associated fever and headache nor any history of vision loss, developmental delay, or movement disorder.
Subject Brain Diseases; Leigh Disease; Nystagmus; Ophthalmoplegia
OCR Text Show
Date 2023-06
Date Digital 2023-06
References 1. Hammans SR, Sweeney MG, Brockington M, Morgan-Hughes JA, Harding AE. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet. 1991;337:1311-1313. 2. Torraco A, Nasca A, Verrigni D, Pennisi A, Zaki MS, Olivieri G, Assouline Z, Martinelli D, Maroofian R, Rizza T, Di Nottia M, Invernizzi F, Lamantea E, Longo D, Houlden H, Prokisch H, Rötig A, Dionisi-Vici C, Bertini E, Ghezzi D, Carrozzo R, Diodato D. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Hum Mutat. 2021;42:699-710. 3. Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996;39:343-351. 4. Sofou K, De Coo IF, Isohanni P, Ostergaard E, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, De Angst IB, Lönnqvist T, Pihko H, Mankinen K, Bindoff LA, Tulinius M, Darin N. A multicenter study on Leigh syndrome: disease course and predictors of survival. Orphanet J Rare Dis. 2014;9:52. 5. Loiselet K, Ruzzenente B, Roux CJ, Barcia G, Pennisi A, Desguerre I, Rötig A, Munnich A, Boddaert N; Paediatric Radiology and Metabolics Group. Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders. Dev Med Child Neurol. 2021;63:705-711.
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, June 2023, Volume 43, Issue 2
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6z06krn
Setname ehsl_novel_jno
ID 2498910
Reference URL https://collections.lib.utah.edu/ark:/87278/s6z06krn
Back to Search Results