Published: 21 February 2020
Author(s): Alejandro Morales Ortega, Carmen Cristóbal Varela, Santiago Serrano Fiz
Section: Internal medicine flashcard

A 64-year-old man, with history of hypertension and hypercholesterolemia, presented with chronic polyarthralgias and backache. He had brown-colored deposits in sclera and blueish pigmentation in helix of both ears (Fig. 1A, B). X-ray examination revealed prominent calcification of intervertebral discs (Fig. 1C). In addition, the patient reported episodes of black urine in his childhood. The color of a urine sample was initially normal, however, it turned blackish after several hours (Fig. 1D). 24-hour urine sample analysis showed high levels of homogentisic acid (HGA) (73,152 mg; normal range 0–10 mg).


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