Lactic acidosis associated with cerebellar vermal atrophy and cardiomyopathy.
The association of fluctuating neurological signs and congestive 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.
D000138:Acidosis / Q000150:complications* / Q000473:pathology; D001284:Atrophy; D006332:Cardiomegaly / Q000150:complications; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D002908:Chronic Disease; D006333:Heart Failure / Q000150:complications*; D006801:Humans; D007223:Infant; D007773:Lactates / Q000097:blood*; D008297:Male; D009206:Myocardium / Q000473:pathology
D007773:Lactates