Lactic acidosis associated with cerebellar vermal atrophy and cardiomyopathy

The association of fluctuating neurological signs and congesitve cardiomyopathy with chronic lactic acidosis is described in a 5 1/2 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.