Lactic acidosis associated with cerebellar vermal atrophy and cardiomyopathy

Challa, V.R.; Markesbery, W.R.; Baumann, R.J.; Noonan, J.A.

Neuropadiatrie 9(3): 277-284

1978


ISSN/ISBN: 0028-3797
PMID: 152418
DOI: 10.1055/s-0028-1091488
Accession: 068522492

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Abstract
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.