Kearns-Sayer syndrome

Kearns-Sayer syndrome

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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:

• Chronic progressive external ophthalmoplegia
• Cardiomyopathy with heart block
• Retinitis pigmentosa

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.

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