Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Genetic metabolic diseases > Kearns-Sayre syndrome

Kearns-Sayre syndrome

Tuesday 31 October 2006

("ophthalmoplegia plus")

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)

Differential diagnosis

- autoimmune polyendocrine syndromes