Neurológia pre prax 2/2014
Kearns-Sayre syndrome
An adult woman developed ptosis with a progredient asymmetric ophthalmoplegia. Muscle weakness and fatigue followed later. In differential diagnostics there was necessary to discern neuromuscular transmission disorder, endocrinopathology, neuropathy or brainstem syndromes. Electromyography disclosed mild myogenic lesion. Changes characterizing a mitochondrial disorder were found in muscle biopsy. Deletions of mitochondrial DNA were detected and Kearns-Sayre syndrome was diagnosed.
Keywords: mitochondrial disorder, oxidative phosphorylation, muscle biopsy, mitochondrial DNA, myopathy, Kearns-Sayre syndrom.
