Kearns-Sayre Syndrome: A Case Report and Review

1992 ◽  
Vol 2 (1) ◽  
pp. 15-20 ◽  
Author(s):  
M. Gross-Jendroska ◽  
H. Schatz ◽  
H.R. Mcdonald ◽  
R.N. Johnson
Keyword(s):  
Heart Block ◽  
Mitochondrial Disorder ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Cerebellar Dysfunction ◽  
Bilateral Ptosis ◽  
Protein Levels ◽  
Corneal Clouding ◽  
Kearns Sayre Syndrome ◽  
Actual Incidence

In 1958, Kearns and Sayre described a multisystem entity, now known as Kearns-Sayre syndrome (KSS). The syndrome is defined as exhibiting a triad of thus far unexplained degenerative conditions: progressive external ophthalmoplegia, retinal pigmentary degeneration, and heart block. Commonly accompanying findings include cerebellar dysfunction and CSF protein levels above 100 mg/dl. Symptoms usually appear in early childhood, but the onset has been seen occasionally in young adults. KSS is a mitochondrial disorder that occurs rarely; the actual incidence is unknown. Ocular findings consist of bilateral ptosis, chronic progressive external ophthalmoplegia, and pigmentary retinopathy. Corneal clouding and optic neuritis are infrequent. We herein report a classic case of Kearns Sayre syndrome and discuss the findings.

scholarly journals Kearns-Sayre Syndrome: A Rare Mitochondrial Disorder

2017 ◽  
Vol 19 (1) ◽  
pp. 66-69
Author(s):  
Quazi Tarikul Islam ◽  
Homayra Tahseen Hossain ◽  
Md Abul Kashem Khandaker ◽  
HAM Nazmul Ahasan ◽  
Maksudul Majumder ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Mitochondrial Disorder ◽  
Progressive External Ophthalmoplegia ◽  
Endocrine Disorders ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Diagnostic Investigation ◽  
Kearns Sayre Syndrome ◽  
First Case ◽  
Wide Range ◽  
Clinical Background

Mitochondrial disease, once thought to be a rare clinical entity, is now recognized as an important cause of a wide range of neurologic, muscle, cardiac and endocrine disorders. Kearns Sayre syndrome is a rare mitochondrial disease, involving deletion of mitochondrial DNA. This syndrome ischaracterized by progressive external ophthalmoplegia (PEO), retinitis pigmentosa and an onset before the age of 20 years. First case was reported in 1958. We are reporting a case with chronic progressive external ophthalmoplegia, bilateral partial ptosis with onset at 10 years of age. He also had features of myopathy and neuropathy without any fatigable weakness. Our diagnosis is mostly based on clinical background and by exclusion of other common disorders, as definitive diagnostic investigation genetic testing due to unavailability so was not done.J MEDICINE Jan 2018; 19 (1) : 66-69

scholarly journals Kearns-Sayre Syndrome: A Rare Mitochondrial Deletion Disorder

2013 ◽  
Vol 33 (1) ◽  
pp. 61-62
Author(s):  
B Roy ◽  
G Mondal ◽  
D Nanda ◽  
S Das ◽  
MK Das
Keyword(s):  
Heart Block ◽  
Serum Lactate ◽  
Deletion Syndrome ◽  
Rare Entity ◽  
Bilateral Ptosis ◽  
Pigmentary Retinopathy ◽  
Kearns Sayre Syndrome ◽  
Gradual Onset

A 9 yr girl presented with bilateral ptosis and deafness of gradual onset for the last four years. Associated ophthalmoplegia and pigmentary retinopathy, heart block, raised CSF protein and serum lactate was suggestive of the diagnosis of Kearns-Sayre syndrome (KSS), a rare entity in the spectrum of the mitochondrial deletion syndrome. Search for endocrinopathy revealed no abnormality. DOI: http://dx.doi.org/10.3126/jnps.v33i1.6696 J Nepal Paediatr Soc. 2013;33(1):61-62

Histological, Enzymatic and Mitochondrial DNA Studies in Patients with Kearns-Sayre Syndrome and Chronic Progressive External Ophthalmoplegia

1991 ◽  
Vol 31 (2) ◽  
pp. 108-113 ◽  
Author(s):  
Heinz Reichmann ◽  
Françoise Degoul ◽  
Ralf Gold ◽  
Bernd Meurers ◽  
Uwe-Peter Ketelsen ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Kearns Sayre Syndrome
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