Sunday, 19 September 2010

MRCP revision battle 15.5: Kearns Sayre

Kearns Sayre is an exceptionally rare condition caused by mitochondrial DNA mutations which results in:
  • progressive external opthalmoplegia
  • pigmentary degeneration of retina
  • heart block

It may also cause proximal muscle weakness, ptosis and ataxia.
Symptoms must begin before the age of 20.

If part 2 asks what investigation you want to do, the correct answer is muscle biopsy looking for ragged red fibres.

Onwards for another brief eponymous syndrome, Klinefelters..