JUVENILE KEARNS-SAYRE SYNDROME INITIALLY MISDIAGNOSED AS A PSYCHOSOMATIC DISORDER

We have investigated a 15 year old girl with progressive external opht halmoplegia, including bilateral ptosis and retinal rod and cone cell dysfunction with atypical retinal pigmentation, complicated by cerebel lar ataxia, partial cardiac conduction block, and diabetes mellitus. I n infancy she had a severe crisis of bone marrow depression, and as a child she suffered from hypersensitivity to light, increasing fatigue, and vertigo, signs that were initially thought to be psychosomatic. H istological examination showed mitochondrial myopathy, and subsequent mitochondrial DNA (mtDNA) analysis showed a deletion of approximately 5500 base pairs in 35 to 40% of her muscle mtDNA. We therefore conclud e that this patient has developed the Kearns-Sayre syndrome after a Pe arson syndrome-like crisis in her first year of life.