MAGNETIC-RESONANCE-IMAGING AND SPECTROSCOPY OF PROGRESSIVE CEREBRAL INVOLVEMENT IN KEARNS-SAYRE SYNDROME

Keams Sayre Syndrome (KSS) belongs to the group of so called 'mitochon drial encephaiopathies'. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) may have the potential to noninvasively detect and monitor disease specific cerebral involvement, as we wish t o demonstrate in a patient whom we have followed for 3.5 years. At fir st presentation with incomplete external ophthalmoplegia, ptosis, pigm entary retinopathy and impaired hearing MRI demonstrated ill defined a reas of symmetric T2-prolongation in the dorsal parts of the mesenceph alon, the pens and in both cerebellar hemispheres. While the patients clinical symptoms deteriorated, including the onset of dysphagia, sign al abnormalities spread downwards into the medulla oblongata involving the glossopharyngeal nuclei and supratentorially into the white matte r. Proton MRS performed with the PRESS sequence (TR/TE 1500/136 ms) in the area of white matter damage showed a doubler at 1.33 ppm, which i s characteristic for the presence of lactate, Our findings suggest MRI abnormalities to increase in parallel with neurologic progression of KSS and confirm the utility of H-1-MRS in supporting mitochondrial res piratory chain insufficiency as the underlying cause of parenchymal al terations.