Marked Elevation of Serum Angiotensin-converting Enzyme and Hepatic Fibrosis Containing Long-spacing Collagen Fibrils in Type 2 Acute Neuronopathic Gaucher’s Disease

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Abstract
Silverstein, Emanuel, Friedland, Joan, and Vuletin, Juan Carlos: Marked elevation of serum angiotensin-converting enzyme and hepatic fibrosis containing long-spacing collagen fibrils in type 2 acute neuronopathic Gaucher’s disease. Am J Clin Pathol 69: 467–470, 1978. Serum angiotensin-converting enzyme in a patient with type 2 acute neuronopathic Gaucher’s disease (242 nmol/min/ml) was 10.8 times higher than values for eight patients with other hereditary neurologic abnormalities (22.5 ± 2.0) and 9.4 times higher than those for 12 patients with other diseases (25.7 ± 2.6) (P < 0.001). Serum lysozyme was not elevated in the patient with type 2 Gaucher’s disease. These results indicate that elevated serum angiotensin-converting enzyme in an infant with neurologic involvement and hepatosplenomegaly is suggestive of the possibility of type 2 Gaucher’s disease. Typical Gaucher’s cells and fibrosis were observed by light and electron microscopy of the liver. An aspect hitherto unreported in Gaucher’s disease or in the liver was that approximately 20% of the collagen fibrils were of the long-spacing type, with periodicity of 1,000 to 1,100 Å and diameters of 900 to 1,500 Å.