Ochronotic Arthropathy of the Shoulder - A Rare Case Report.

Abstract

Introduction: Alkaptonuria is a metabolic disorder due to accumulation of homogentisic acid, leading to destruction of major joints. Very few cases of ochronosis with shoulder involvement have been reported in literature.

Case report: We report a 31-year-old male who presented with shoulder pain for 4 months. Clinical examination and magnetic resonance imaging showed tear of the long head of biceps tendon and labral tear. On arthroscopy, we discovered that there was blackish discoloration of the glenoid rim. On investigating further, homogentisic aciduria was found (865; normal value <0.99), suggesting a diagnosis of alkaptonuria. Our patient had relief of symptoms following debridement and biceps tenodesis at 12 weeks.

Conclusion: Arthroscopy helps in the diagnosis and treatment of ochronosis with shoulder involvement.