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Kearns-Sayre Syndrome

What is Kearns-Sayre Syndrome (KSS)?

Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. 

At least one of the following must also be present: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia.

What are the symptoms of Kearns-Sayre Syndrome (KSS)? 

At least one of the following must also be present: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia.

Other symptoms include:

  • Mild skeletal muscle weakness
  • Short stature
  • Hearing loss
  • Impaired cognitive function
  • Diabetes mellitus
  • Infrequent seizures

Furthermore, several endocrine disorders can be associated with Kearns-Sayre syndrome, including delayed sexual maturation, hypothyroidism, and growth hormone deficiency.

What causes Kearns-Sayre Syndrome (KSS)? 

Kearns-Sayre syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form that can be used by cells. 

People with Kearns-Sayre syndrome have a single, large deletion of mtDNA which results in the loss of genes important for mitochondrial formation. While researchers have not determined how these deletions cause the features of Kearns-Sayre syndrome, they may be related to a lack of cellular energy The underlying cause of the deletion in affected individuals remains unknown.

How is Kearns-Sayre Syndrome (KSS) diagnosed?

The diagnosis of KSS may be suspected when the three primary characteristics associated with this disorder occur in association with one another. These include:

  • Paralysis of certain eye muscles (chronic progressive external ophthalmoplegia, or CPEO)
  • Abnormal coloration of the delicate membrane lining the eyes (atypical retinitis pigmentosa)
  • Other changes in the structures of the eye (pigmentary degeneration of the retina) 

Diagnosis of KSS may be confirmed by a thorough clinical evaluation and a variety of specialized tests.

What are the treatments for Kearns-Sayre Syndrome (KSS)?

Treatment for Kearns-Sayre syndrome is generally symptomatic and supportive.

Management options include:

  • Placement of cardiac pacemakers in individuals with cardiac conduction blocks
  • Eyelid slings for severe ptosis
  • Cochlear implants and hearing aids for neurosensory hearing loss
  • Hormone replacement for endocrinopathies
  • Dilation of the upper esophageal sphincter to alleviate cricopharyngeal achalasia

Where can I find out more about Kearns-Sayre Syndrome (KSS)? 

Kearns-Sayre Syndrome Articles

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