Leigh's disease : analysis of clinical and imaging characteristics with possible therapeutic implications

The symptoms and signs of Leigh's disease are so variable that the diagnosis is extremely difficult. The disease was so far being confirmed only at autopsy. Antemortem clinical diagnosis, however, is important, as some of these patients may respond to high dose of vitamin B-1. We report two patients of Leigh's disease suspected clinically and confirmed on MR imaging. Both the patients responded partially to parenteral thiamine and subsequently remained stable on convenient oral dosage during one year of observation. Follow-up MRI done on patient showed resolution of some of the lesions, no change in some and appearance of some new lesions. There was no definite correlation between the thiamine related clinical recovery and the structural changes observed on MRI. The extreme rarity of involvement of medulla and cervical spinal cord as observed in one of the patients and of external capsule as seen in the other patient, is highlighted.