CASE HISTORY – July 2005

Genetically proven Kearns-Sayre syndrome in Estonia


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A 29-years-old man with a fifteen-year history of bilateral ptosis was admitted in the neurology department for further investigations and possible treatment. Previous investigations had not established a sustainable diagnosis. Lately, there had occurred sensorineural hearing loss from both ears as well as headaches and fatigue. Kearns-Sayre syndrome was diagnosed by the genetic testing of mitochondrial DNA from the skeletal muscle.

Kearns-Sayre syndrome is a rare mitochondrial disease. It affects many organ systems, especially those with high energy intake tissues. The onset of the disease takes place before age 20, starting with visual disturbances caused by chronic progressive external ophthalmoplegia. Cardiac conduction abnormalities, elevated cerebrospinal fluid protein and cerebellar dysfunction are common. Abnormalities of mitochondrial DNA are revealed as depletions or reduplications. Even the size of the depletions differ, while the phenotype is the same. There is no special treatment for KSS. Supplementary vitamin Q10 and L-carnitine increase cell energy production. Patients with KSS should be under the supervision of the ophthalmologist, neurologist and cardiologist.