Kearns – Sayre Syndrome (KSS)

Kearns – Sayre Syndrome (KSS)
(Chronic Progressive External Opthalmoplegia and Myopathy)

This is a rare condition that affects eyes, muscles near torso, face and heart. Symptoms occur before the age of 20, starting from the first years of life. It is caused by mutations in mitochondrial DNA, which occur mainly at random and during embryonic development and are rarely inherited by the mother to the offspring, whether they are boys or girls. The clinical features are related to the lack of energy, which is why the eyes are especially damaged, which depend directly on mitochondria. It occurs at a frequency of 1-3: 100,000 people and usually reduces life expectancy mainly due to heart problems.

 

Symptoms

Ophthalmoparesis, ie weakness or paralysis of the ocular muscles, which leads to the fall of one or both eyelids is present. Retinopathy- retinitis pigmentosa, ie degeneration of the retina, may even lead to blindness. In addition, there are heart dysfunctions, mainly cardiomyopathy and heart rhythm disorders leading to arrhythmias, even cardiac arrest. High protein content is present in cerebrospinal fluid. There is proximal myopathy, which concerns the facial muscles, causing problems of speech, pharynx, causing problems of swallowing, neck and shoulders, and gradually there is a problem in the muscles of the limbs, creating motor problems. There is additionally low stature, multiple endocrinopathies (e.g., diabetes mellitus, hypoparathyroidism, Addison’s disease, hypogonadism), renal acidosis leading to renal failure, mental retardation, memory loss and dementia. Patients who reach the age of 40 have bilateral deafness.

Rarely, KSS is associated with other disorders including the absence of specific reflexes, renal disorders and peripheral neuropathy.

 

Diagnosis

  • Clinical examination.
  • Electrocardiogram.
  • Muscle biopsy.
  • Lumbar puncture.
  • Computed Tomography.

 

Management

  • Treatment of underlying disorders (eg diabetes mellitus).
  • Pacemaker to restore heart rate.
  • Antiarrhythmic medication.
  • Ophthalmic surgery and use of suitable ophthalmic devices to improve vision.
  • Social and psychological support.
  • Physical therapy.
  • Occupational Therapy.

 

References

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