[Ochronosis: a case report with multisystemic affectation, including pericardium]

Abstract

Alkaptonuric ochronosis is rare disorder of tyrosin catabolism with an autosomal recessive trait. Alkaptonuric patients are deficient for homogentisate 1,2-dioxygenase. This enzymatic deficiency leads to the elimination of large amounts of homogentistic acid in the urine (Alkaptonuria) with accumulation of homogentistic acid oxidized pigment in the connective tissue (Ochronosis). The most common clinical features are dark brown discoloration of urine on exposure to air; ocular and cutaneous pigmentation; calcification of the intervertebral disc and cardiovascular ochronosis, especially calcification and stenosis of the aortic valve. The diagnosis is confirmed by detection of homogentistic acid in urine. We report a case of a 87 year old female which has all these clinical features mentioned above and pericardiac calcification, which had not been previously reported, to our knowledge.