Ochronotic Arthropathy: Degenerative and Complex Tear of Black Meniscus

Abstract

In this report, a case of a black meniscus with underlying ochronosis is described. Further analysis by laboratory findings showed that the patient had underlying alkaptonuria, which was previously undiagnosed. The patient's symptoms showed improvement after arthroscopic treatment.Key words: ochronosis, alkaptonuria, arthroscopy, knee Alkaptonuria (AKU) is a rare hereditary autosomal recessive metabolic disease that has an incidence rate of one in 250,000 to 1,000,000 live births characterized by a defect in the gene coding for homogentisate 1, 2-dioxygenase. The diagnosis of ochronosis is usually made in a middle-aged patient (40s and older) with a triad of degenerative joint disease, ochronotic pigmentation of the sclera and skin and the characteristic urine changes. 3,5,6) The skeletal system is predominantly involved, although other systems, including cardiovascular and urinary systems, may also be affected. The natural history of ochronotic arthropathy is known to be of relentless progression, sometimes rapid, that eventually leads to destruction of the joint. This disease may progress from simple AKU to alkaptonuric ochronosis and finally to ochronotic arthropathy. 6,7) In this report, degenerative and complex tear of black meniscus is presented with knee arthroscopic findings. CASE REPORTA 78-year-old male patient with Korean nationality had suffered constant knee pain for 5 years. The patient complained pain on medial and lateral aspect of knee joint which worsened during pISSN : 1226-2102, eISSN : 2005

Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases

“…Since then, there has been a report of ochronotic arthropathy in the Department of Orthopedic Surgery, and no genetic analysis has been conducted [14]. As far as we know, this is the first case confirmed by genetic diagnosis.…”

Black Bone Disease: Ochronotic Arthritis Detected during Knee Arthroplasty

“…There have been case reports of discolouration of the urine and rupture of the black crescent-shaped cartilage. [6][7][8] However, to date, there have been no reports of arthritis in alkaptonuria in Korea. Herein, we report a case of ochronotic arthritis observed during total knee arthroplasty with a literature review.…”