Clinical, radiographic and echocardiographic findings in a patient with ochronosis

Herditary alkaptonuric ochronosis is an autosomal recessive metabolic disorder that affects approximately one in one million individuals. The most common clinical features are homogentisic aciduria, pigmentation of cartilages and other connective tissues, ochronotic arthritis and cardiovascular ochronosis. We report a case of ochronosis which has all these clinical features mentioned above. We detected homogentisic acid in the patient's plasma and urine sample by using a high-performance liquid- chromatographic method. The patient was HLA-B27 negative. The case was evaluated with both conventional radiography and helical CT. The main characteristic manifestations of ochronotic arthritis were observed in conventional radiographs. We also obtained Ray-Sum and maximum intensity projections (MIP) images of ankylosed ochronotic spine of our patient. Such images of an ochronotic patient were not encountered in the literature. Echocardiographic examination revealed thickening of the right coronary cusp which may be related to ochronotic calcific deposition, along with coaptation deficiency and slight aortic regurgitation (grade I-II). No other abnormalities concerning the other valves and ventricular function were detected.