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HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHASE DEFICIENCY: CLINICAL-ROENTGENOLOGIC CORRELATIONS

PAULA W. BRILL M.D., HAROLD A. MITTY M.D., and GERALD E. GAULL M.D.

The roentgenologic findings have been documented in 10 patients with enzymatically diagnosed deficiency of cystathionine synthase. Patients responsive to massive doses of pyridoxine have the largest amount of residual cystathionine synthase activity. Those who are unresponsive show virtually no residual activity. The pyridoxine-responsive patients show the mildest and fewest roentgenologic findings. Similarly, those patients unresponsive to pyridoxine are the most severely affected roentgenologically, although the type of involvement is variable.

Calcific spicules and streaks in the radius or ulna may be diagnostically useful as an early finding in children. In young adults with thromboembolic disease, the presence of one or more of the diverse skeletal changes may suggest the diagnosis of homocystinuria.


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