ABSTRACT
A boy suffering from recurrent episodes of acute encephalopathy and hepatic steatosis died at 40 months of age. The symptoms started when he was 13 months old and he appeared completely normal in the intervals. Pertinent biologic findings were as follows: slight labile hypoglycemia and hyperammonemia having no direct correlation with neurologic derangement, no elevation of ammonia levels in loading tests, complete failure to generate ketones and the absence of organic aciduria during a fast, normal plasma carnitine levels and normal activity of long and medium chain acyl-CoA-dehydrogenase in skin fibroblasts. Pertinent autopsy findings were marked steatosis of liver and renal tubular cells with many foamy histiocytes in bone marrow. An error in metabolic pathways, particularly a derangement in lipid metabolism, was considered.
Subject(s)
Acyl-CoA Dehydrogenases/metabolism , Brain Diseases/enzymology , Fatty Liver/enzymology , Lipid Metabolism, Inborn Errors/diagnosis , Acute Disease , Acyl-CoA Dehydrogenase , Diagnosis, Differential , Humans , Infant , Male , Reye Syndrome/diagnosisABSTRACT
Biopsy of skin for etiologic evaluation of generalized erythematous eruptions in a 4 1/2 years old child, starting four months ago, led to diagnosis of acute lymphoblastic leukemia. Leukocyte counts five and eight weeks and four months after appearance of eruptions were normal and no blasts were found. A leukocyte count performed simultaneously with biopsy of skin also showed few (less than 10%) blasts. Histologic examination of skin revealed two types of pathologic lesions: a perivascular cuffing of lymphoblasts and a leukocytoclastic type of small vessel vasculitis in other parts. This type of vasculitis which have been reported in association with chronic lymphocytic and hairy cell leukemias, is uncommon in acute lymphoblastic leukemia.
