Kearns-Sayer syndrome

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Kearns-Sayer syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Synonyms and Key Words: Kearns Syndrome, Kearn-Sayre Mitochondrial Cytopathy, Kearns' Syndrome, Kearns-Sayre-Shy-Daroff Syndrome

Overview

Kearns-Sayer syndrome is a mitochondrial disorder featuring the triad of: [1]

Diagnosis

Disease onset is in the first or second decade.

Diagnostic features include:

  • Elevated CSF protein
  • Sensorineural deafness
  • Seizures
  • Pyramidal signs
  • Ragged-red fibers are found on muscle biopsy.


Template:WikiDoc Sources

  1. Adams et al., Principles of Neurology, 6th ed, p984