“Kearns-Sayre Syndrome (KSS) is a rare mitochondrial disorder secondary to large mtDNA deletions, with onset before age of 20, presenting with extrinsic ophthalmoplegia, retinopathy and other neurological and systemic comorbidities.
We report the case of a 29-years-old patient with a 5000bp mtDNA deletion and a classic ocular, cardiological and neuromuscular involvement with childhood onset. Over the last year, he developed a progressive worsening of ataxia, distal paresthesias, and a mild xypho-sternal sensory level. An electroneurography and a head-spine CT resulted normal. Somatosensory evoked potentials objectivated an alteration at spinal cord level. A brain and spine MRI was performed showing cerebral and brainstem T2/FLAIR hyperintensities and non enhancing spinal lesions at C3-C4 and C7. As the clinical and radiological features seemed compatible with a central nervous system (CNS) inflammatory disease, a lumbar puncture was performed: an hyperproteinorrachia without pleocytosis, modest elevation of lactic acid, and a pattern 1 isoelettrofocusing with normal kappa index were found. Serum or CSF anti-MOG and anti-Aquaporin 4 antibodies were negative.
The case was collegially discussed, and a spinal clinical isolated syndrome in an inflammatory CNS disease was finally considered; symptoms partially recovered with pregabalin, and a disease-modifying treatment was proposed.
Although brain involvement in KSS has been widely documented, spinal cord lesions have been sporadically and uncertainly reported. In this case, the similarity of CNS clinical and radiological features with an inflammatory disorder prompted to opt for a double-trouble and a tentative treatment; clinical and instrumental follow-up will be necessary to provide proper diagnosis and treatment.”