KEARNS-SAYRE SYNDROME: A CASE WITH LITERATURE REVIEW

Year 2003, Volume: 16 Issue: 2, 116 - 120, 03.12.2016

Filiz Koç Suzan Zorludemir Yakup Sarıca

Abstract

Kearns-Sayre Syndrome is a rare mitochondrial disorder which is caused by mitochondrial DNA deletion. It has a typical triad of progressive external ophthalmoplegia, pigmentary retinopathy, and heart block. Multisystem involvements may frequently be associated with these features. Ragged red fibers are shown in histopathological examination and these findings can be confirmed by electronmicrography. In this article, a 17-year-old male who had this triad and other clinical conditions, such as short stature, sensorineural hearing loss, lactic acidosis, and hypogonadism was presented in the light of the literature review.
Key Word: Kearns Sayre Syndrome, Clinical, laboratory and histopathological findings.

References

• Gross-Jendroska M, Schatz li, McDonald UK, Johnson KIT. Kearns-Sayre syndrome: a case report and review. Eur J Ophthalmol. ¡992:2:15-20.
• Anan K, Tiakagawa M, Mlyata M, ct al: Cardiac involvement In mitochondrial diseases. A study on 17 patients with documented mitochondrial DITA defects. Circulation 1995;91:955-961.
• Zeviani M, Moraes CT, DiMauro S, et ai: Deletions of mitochondrial DITA in Kearns- Sayre syndrome, neurology 1998:51:1525- 1533.
• Chinncry PE, Turnbull DM: Mitochondrial DIT A mutations in the pathogenesis of human disease. Mol Med Today 2000:6:425-432.
• 1 9
• Filiz Koç, et al.
• Elson JL, Samuels DC, Turnbull DM, Chinnery PF. Random intracellular drift explains the clonal expansion of mitochondrial DHA mutations with age. Am J Hum Genet 2001;68:802-806.
• Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DMA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. H Engl J Med 1989:320:1293- 1299.
• De Coo IF, Gussinklo T, Arts PJ, et al. A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DHA from blood samples. J Heurol Sci 1997; 149:37-40.
• Schnitzer ER, Robertson lVC Jr. Familial Kearns-Sayre syndrome. neurology 1979;29:1 172-11 74.
• Rowland LP, Hausmanowa-Petrusewicz I, Bardurska B, et al. Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease? neurology 1988:38:1399-1402.
• Marie SK, Carvalho AA, Fonseca LE, et al. Kearns-Sayre syndrome 'plus'. Classical clinical findings and dystonia. Arq Heuropsiquiatr. 1999;5 7:101 7-1023.
• Harvey Jn, Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (0x0 1992;37:97-103.
• Artuch R, Pavia C, Playan A, et al. Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome: Horm Res 1998;50:99-104.
• Wilichowski E, Gruters A, Kruse K, et al. Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DHA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. Pediatr Res 1997;41:193-200.
• Poulton J, O'Rahilly S, Morten KJ, Clark A. Mitochondrial DHA, diabetes and pancreatic pathology in Kearns-Sayre syndrome. Diabetologia 1995:38:868-8 71.
• Eviatar L, Shanske S, Gauthier B, et at. Kearns- Sayre syndrome presenting as renal tubular acidosis. Heurology 1990:40:1761-1 763.
• McDonald DG, McMenamin JB, Farrell MA, et al. Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DHA deletion. Am J Med Genet 2002,111:191- 194.
• Schroder JM. neuropathy associated with mitochondrial disorders. Brain Pathol I993;3: 177-190.
• Zanssen S, Molnar M, Buse G, Schroder JM. Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy. Clin Heuropathol 1998; 1 7:291 -296.
• Rajakannan Ciayathri, Prasad W, Ramakrishnan R, Prajna HV. Kearns Sayre syndrome: an atypical presentation. Indian J Ophthalmol 2000;48:54-55.
• Simaan EM, Mikati MA, Tourna EH, Rotig A. Unusual presentation of Kearns-Sayre syndrome in early childhood. Pediatr Heurol 1999;21:830-831.
• Boles RG, Roe T, Senadheera D, et al. Mitochondrial DHA deletion with Kearns-Sayre syndrome in a child with Addison disease. Eur J Pediatr 1998; 157:643-647.
• Mori K, Harahara K, Hinomiya S, ct al. Renal and skin involvement in a patient with complete Kearns-Sayre syndrome. Am J Med Genet 1991;38:583-587.
• Rashid A, Kim MH. Ekokardiography may be seen prolapse with thickening and degeneration of mitral valve, J Cardiovasc Electrophysiol 2002; 13:184-185.
• Katsanos KH, Pappas CJ, Patsouras D, et ai. Alarming atrioventricular block and mitral valve prolapse In the Kearns-Sayre syndrome. Int J Cardiol 2002;83:179-181.
• Provenzale JM, VanLandingham K.Cerebral infarction associated with Kearns-Sayre syndrome-related cardiomyopathy. Heurology 1996;46:826-828.
• Kosinski C, Mull M, Lethen H, Topper R. Evidence for cardioembolic stroke in a case of Kearns-Sayre syndrome. Stroke 1995:26:1950-1952.
• Chu BC, Terae S, Takahashi C, et al: MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Heuroradiology 1999;41:759-64.
• Wray SH, Provenzale JM, Johns DR, Thulborn KR. MR of the brain in mitochondrial myopathy. Am J Hcuroradiol 1995; 16:1167- 1173.
• Reichmann H, Vogler L, Seibel P. Ragged red or ragged blue fibers. Eur Heurol 1996:36:98- 102.
• Polak PE, Zijlstra E, Roelandt JR. Indications for pacemaker implantation in the Kearns- Sayre syndrome. Eur Heart J 1989; 10:281 -282.
• Komura K, Hobbiebrunken E, Wilichowski EK, et al. Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies. Pediatr Heurol 2003;28:53-58.