INTRODUCTION - Alkaptonuria is a rare metabolic disorder affecting 1 in 250,000 to 1 million people worldwide due to an autosomal recessive mutation of homogentisate oxidase gene, located on chromosome 3q21-q23.
CASE REPORT - A 37 year old female came to the outpatient department with chief complaint of inability to move the left ankle and pain over the back of left ankle since 1week following a trivial trauma. She was unable to walk on the affected side since injury. On Local examination revealed tenderness at tendo achilles insertion site with a gap, Thompsons test was positive. Ultrasound showed tear of achilles tendon with thickening.
DISCUSSION - Alkaptonuria is a benign, rare inherited condition affecting 1 in 250,000 to 1 million people worldwide. This disorder usually appears in early life but skeletal deformities usually occur after third decade of life.
CONCLUSION - Usually achilles tendon rupture occurs following trauma and spontaneous achilles tendon rupture is rare. Ochronotic achilles tendon tear is a rare entity and can present with spontaneous Achilles tendon tear as the initial sign. Hence in case of spontaneous achilles tendon tear one has to keep in mind the unusual diagnosis of Alkaptonuria.
Alkaptonuria, achilles tendon, autosomal recessive mutation.