Avulsive Achilles Tendon Rupture in a Patient With Alkaptonuria: A Case Report
Luís Fabião,
Guilherme França,
Anita Cunha
et al.
Abstract:Alkaptonuria is a rare autosomal recessive disease caused by a mutation in the homogentisate 1,2-dioxygenase (HGO) gene, leading to the accumulation of homogentisic acid (HGA). HGA polymerizes to form a black pigment that accumulates in connective tissue and joints (ochronosis), causing their destruction. In this work, we report a case of Achilles tendon rupture in a patient with a prior diagnosis of alkaptonuria.
A 71-year-old man presented to the emergency department reporting pain in his posterio… Show more
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