DOI: 10.36347/sjams.2020.v08i12.001

Pages: 2685-2689

Introduction: Alkaptonuria (AKU) is a rare autosomal recessive disorder result from a deficiency of homogentisate 1, 2 dioxygenase (HGD), and leading to the accumulation of homogentisic acid (HGA) in the tissue. The deposition of excess oxidized HGA in the connective tissues causes pigmentation (ochronosis) and degeneration of the joint (ochronotic arthropathy) and tendons (ochronotic tendinopathy). There is no effective therapy for this disorder a side of symptomatic treatment. Case: we report our 43-year-old male farmer, who presents with bilateral asynchronous spontaneous Achilles tendon rupture (5 months apart) with no history of trauma or drug use, nonspecific low back pain, and apparent black pigments in the sclera, with a positive family history of similar condition. Diagnosis: laboratory investigations revealed black urine upon long-standing. A blackish degenerative tendon found during the operation. In addition, the Intraoperative Histopathological study shows dark stains and fibrosis with presence of inflammatory cells consistent with Alkaptonuria. Interventions: debridement of the distal end of the tendon was done; repair was done with augmentation of repair by anchor suture to calcaneus. Outcomes: The patient recovered very well after the operation with the restoration of full activity.