The association of fluctuating neurological signs and congestive cardiomyopathy with chronic lactic acidosis is described in a 5œ year old boy who ultimately succumbed to congestive heart failure. The autopsy findings included severe atrophy of the anterior cerebellar vermis and a hypertrophied heart with left sided endocardial fibroelastosis. Skeletal and cardial muscle calcification was prominent and probably due to the effect of intracellular metabolic alterations associated with lactic acidosis. A review of the literature shows that the combination of cardiomyopathy, isolated atrophy of cerebellar vermis and muscle fiber calcification have not been reported in association with idiopathic lactic acidosis previously.
Cardiomyopathy - calcification - cerebellar vermis - metabolic acidosis - lactic acidosis
