| CASE REPORTS |
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| Year : 2023 | Volume
: 11
| Issue : 1 | Page : 35-39 |
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Rare case alert: Ochronotic arthropathy and its skeletal manifestations in 2 Indian siblings
Sherashah F Kammar, Adiveppa A Hosangadi, Hemanth D Ramaiah
Department of Orthopaedics, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
Correspondence Address:
Dr. Hemanth D Ramaiah
#8, Dr. Kuvempu Road, R S Palya, Kammanahalli Main Road, Bangalore
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/JOASP.JOASP_10_23
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Alkaptonuria is a rare inborn error of metabolism disorder, with an incidence of one in a million births presenting with a triad of dark staining of urine, ochronosis, and Spondyloarthropathy. Till date, 1233 cases have been reported. Ochronotic arthropathy has often been a “serendipity,” with most diagnosis being made intraoperatively when the operating surgeons encountered “black” discs or “bluish-black cartilage. Spine involvement often precedes other musculoskeletal symptoms and begins after 30 years. Symptomatic treatment and arthroplasty form the mainstay of treatment as this disorder has no cure. We report a case of two brothers with a history of lumbar disc prolapse with radiculopathy, for which they underwent a surgery in their early thirties. They were asymptomatic for 6 years following the surgery before developing back stiffness and multiple large joint pains. The brothers were treated as HLA-B27 negative ankylosing spondylitis by multiple clinicians for 3 years before presenting to us with fused vertebrae, advanced arthritis of shoulder and knee, and avascular necrosis of bilateral femoral head. Alkaptonuria is a very rare disease; the symptoms of progressive low back ache/stiffness coupled with arthropathy of axial/weight bearing joints in an individual over 30 years should prompt the clinician to consider a diagnosis of alkaptonuri. Arthroplasty is the only solution to a pain-free functional life; however, it has its own complications. Hence, early diagnosis and lifestyle modifications might help delay the natural course of this debilitating disease until newer therapies emerge. |
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