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American Journal of Roentgenology, Vol 100, 147-154, Copyright © 1967 by American Roentgen Ray Society

ROENTGEN FINDINGS IN HOMOCYSTINURIA

SAMUEL W. SMITH 1

1 From the Department of Radiology, University of Florida, College of Medicine, Gainesville, Florida

1. The roentgen findings in 3 cases of homocystinuria are described and compared with 71 other cases in the literature.

2. Homocystinuria is a recently discovered inborn error of methionine metabolism characterized by ectopia lentis (100 per cent), mental retardation 73 per cent), and skeletal abnormalities suggesting the Marfan syndrome (35 per cent), such as kyphoscoliosis, genu valgum, pectus carinatum, long extremities, arachnodactyly, and dilatation with thrombosis of medium sized arteries and veins.

3. The only feature of the skeletal abnormality which differs from the Marfan syndrome is the presence of marked generalized osteoporosis. This has been described in 14 cases (including our 3) and may have been present in many other cases. Generalized osteoporosis also occurs in patients without the stigmata of the Marfan syndrome.


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Copyright © 1967 by the American Roentgen Ray Society.