Kearns-Sayre syndrome

Definition: Kearns-Sayre syndrome (KSS) is a form of mitochondrial myopathy in which specific clinical features, namely progressive external ophthalmoplegia, pigmentary retinal degeneration and cardiac conduction defects.

KKS is a sporadic disorder, associated with a large mtDNA deletion/rearrangement. The disorder may present with cerebellar ataxia in addition to the progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects.

Pathologically, there is spongiform change in gray and white matter, with neuronal loss most evident in the cerebellum.

Synopsis

 progressive external ophthalmoplegia
 pigmentary retinal degeneration
 cardiac conduction defects
 multiple endocrine dysfunction (1424198)

• short stature
• hypogonadism (gonadal failure )
• diabetes mellitus
• thyroid disease
• hyperaldosteronism
• hypomagnesaemia
• bone, tooth and calcification abnormalities
• hypoparathyroidism

Differential diagnosis

 autoimmune polyendocrine syndromes