Publication

Abstract : Ochronosis or the musculoskeletal manifestation of Alkaptonuria is a rare autosomal recessive disorder due to deficiency of the enzyme Homogentisic acid oxidase. Deficiency of this enzyme leads to the three cardinal features of alkaptonuria - the presence of Homogentisic acid in urine, Ochronosis (bluish - black pigmentation in connective tissue) and arthritis. We report a case of a 50 year old man with spontaneous rupture of Quadriceps tendon as the first symptom of Ochronosis who also had to undergo total hip arthroplasty and total knee arthroplasty after three years of follow up due to ochronotic arthropathy. Spontaneous tendon rupture due to Ochronosis and total jont replacement in the same patient have not been previously reported.