| 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 |
| 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 |
