Kearns-Sayre syndrome

external

• Effects

  • Chronic progressive external ophthalmoplegia
  • Retinitis pigmentosa
  • Sensorineural deafness
  • Cerebellar ataxia
  • Short stature
  • Type I diabetes mellitus
  • Third degree atrioventricular block
  • Proximal myopathy
  • Elevated protein in CSF
  • Bilateral ptosis
  • Hereditary lactate acidosis
  • Familial dilated cardiomyopathy

• Parents

  • Mitochondrial chromosome disorder

• Description

  • "Under 20 yrs at presentation 80% have deletions in mitochodrial DNA from muscle biopsy"