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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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