Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism
A rare cause of mitochondrial diabetes and hypogonadotropic hypogonadism
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Abstract
Kearns-Sayre syndrome is a rare mitochondrial disease that presents before the age of 20 years with ptosis, external ophthalmoplegia, and pigmentary retinopathy associated with endocrine and cardiac conduction abnormalities. Here we report an 18-year-old female presenting with fever, cough, secondary amenorrhea, diabetes ptosis, external ophthalmople gia, and ataxia . Fundosc opy revealed pigmen tary retinopathy. ECG showed intraventricular conduction abnormalities, and 2D echocardiography revealed global left ventricular hypokinesia with reduced ejection fraction. Hence, the diagnosis of Kearns-Sayre syndrome was made.
[1] Koka K, Patel BC. Ptosis Correction. [Updated 2023 Jul 10]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK539828/.
[2] Abu Diab A, AlTalbishi A, Rosin B, Kanaan M, Kamal L, Swaroop A, et al. The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. Acta Ophthalmol. 2019;97(6):e877-e886 . https://doi.org/10.1111/aos.14095
[3] Goldstein A, Falk MJ. Single Large-Scale Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. PMID: 20301382.
[4] Nguyen MTB, Micieli J, Margolin E. Teaching NeuroImages: Kearns-Sayre syndrome. Neurology. 2019;92(5):e519-e520 . https://doi.org/10.1212/WNL.0000000000006861
[5] Tsang SH, Aycinena ARP, Sharma T. Mitochondrial disorder: Kearns-Sayre syndrome. Adv Exp Med Biol. 2018;1085:161-2. https://doi.org/10.1007/978-3-319-95046-4_30
[6] Saldaña-Martínez A, Muñoz ML, Pérez-Ramírez G, Montiel-Sosa JF, Montoya J, Emperador S, et al. Whole sequence of the mitochondrial DNA genome of Kearns-Sayre syndrome patients: Identification of deletions and variants. Gene. 2019;688:171-81. https://doi.org/10.1016/j. gene.2018.11.085
[7] Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF. Kearns-Sayre syndrome presenting as isolated growth failure. BMJ Case Rep. 2013;2013:bcr2012007272 . https://doi.org/10.1136/bcr- 2012-007272
[8] Harvey JN, Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (Oxf). 1992;37(1):97-103. https://doi.org/10.1111/j.1365-2265.1992.tb02289.x
[9] Khambatta S, Nguyen DL, Beckman TJ, Wittich CM. Kearns-Sayre syndrome: a case series of 35 adults and children.
Int J Gen Med. 2014;7:325-32. https://doi.org/10.2147/IJGM. S65560
[10] Yu M, Yu L, Wang ZX. Diagnosis and management of Kearns-Sayre syndrome rely on comprehensive clinical evaluation. Chin Med J (Engl). 2016;129(20):2519-20. https://doi.org/10.4103/0366-6999.191855
[11] Shemesh A, Margolin E. Kearns-Sayre Syndrome. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482341/.
[12] Lee SJ, Na JH, Han J, Lee YM. Ophthalmoplegia in mitochondrial disease. Yonsei Med J. 2018;59(10):1190-6. https://doi.org/10.3349/ymj.2018.59.10.1190
[13] Padhy SK, Kumar V, Mandal S. Pigmentary retinopathy in Kearns-Sayre syndrome. BMJ Case Rep. 2018;2018:bcr2018225635 . https://doi.org/10.1136/bcr-2018-227394
[14] Trivedi M, Goldstein A, Arora G. Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome. Cardiol Young. 2018;28(12):1487-8. https://doi.org/10.1017/S104795111801609
[2] Abu Diab A, AlTalbishi A, Rosin B, Kanaan M, Kamal L, Swaroop A, et al. The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. Acta Ophthalmol. 2019;97(6):e877-e886 . https://doi.org/10.1111/aos.14095
[3] Goldstein A, Falk MJ. Single Large-Scale Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. PMID: 20301382.
[4] Nguyen MTB, Micieli J, Margolin E. Teaching NeuroImages: Kearns-Sayre syndrome. Neurology. 2019;92(5):e519-e520 . https://doi.org/10.1212/WNL.0000000000006861
[5] Tsang SH, Aycinena ARP, Sharma T. Mitochondrial disorder: Kearns-Sayre syndrome. Adv Exp Med Biol. 2018;1085:161-2. https://doi.org/10.1007/978-3-319-95046-4_30
[6] Saldaña-Martínez A, Muñoz ML, Pérez-Ramírez G, Montiel-Sosa JF, Montoya J, Emperador S, et al. Whole sequence of the mitochondrial DNA genome of Kearns-Sayre syndrome patients: Identification of deletions and variants. Gene. 2019;688:171-81. https://doi.org/10.1016/j. gene.2018.11.085
[7] Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF. Kearns-Sayre syndrome presenting as isolated growth failure. BMJ Case Rep. 2013;2013:bcr2012007272 . https://doi.org/10.1136/bcr- 2012-007272
[8] Harvey JN, Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (Oxf). 1992;37(1):97-103. https://doi.org/10.1111/j.1365-2265.1992.tb02289.x
[9] Khambatta S, Nguyen DL, Beckman TJ, Wittich CM. Kearns-Sayre syndrome: a case series of 35 adults and children.
Int J Gen Med. 2014;7:325-32. https://doi.org/10.2147/IJGM. S65560
[10] Yu M, Yu L, Wang ZX. Diagnosis and management of Kearns-Sayre syndrome rely on comprehensive clinical evaluation. Chin Med J (Engl). 2016;129(20):2519-20. https://doi.org/10.4103/0366-6999.191855
[11] Shemesh A, Margolin E. Kearns-Sayre Syndrome. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482341/.
[12] Lee SJ, Na JH, Han J, Lee YM. Ophthalmoplegia in mitochondrial disease. Yonsei Med J. 2018;59(10):1190-6. https://doi.org/10.3349/ymj.2018.59.10.1190
[13] Padhy SK, Kumar V, Mandal S. Pigmentary retinopathy in Kearns-Sayre syndrome. BMJ Case Rep. 2018;2018:bcr2018225635 . https://doi.org/10.1136/bcr-2018-227394
[14] Trivedi M, Goldstein A, Arora G. Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome. Cardiol Young. 2018;28(12):1487-8. https://doi.org/10.1017/S104795111801609
| Files | ||
| Issue | Vol 9 No 4 (2024): July-August | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v9i4.17987 | |
| Keywords | ||
| Kearns sayre syndrome Mitochondrial diabetes Pigmentary retinopathy Ophthalmoplegia | ||
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How to Cite
1.
Mudraje S, Khare J, Garg N, Jindal S. Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism. CRCP. 2025;9(4):186-191.
