AI Summary & Key Takeaways
AI InsightAs a result of the examinations made, this condition which was mimicking a tumour, suggested that with ageing the accumulation of homogentisic acid had advanced to the diaphysis.
📌 3 Key Takeaways
Abstract
Alkaptonuria is a rare metabolic disease with autosomal recessive transfer caused by a congenital deficiency of homogentisic acid oxidase enzyme. The case is here presented of a 62-year old male, who was one of two siblings diagnosed with alkaptonuria and ochronosis and followed up in our clinic. Due to homogentisic acid accumulation, there was multiple joint involvement in the patient, including vertebrae. Total knee arthroplasty was applied to the patient in two separate sessions because of advanced stage bilateral knee osteoarthritis. Widespread lytic appearance in the diaphysis causing isolated tibia involvement was observed, which has not been previously observed in literature. As a result of the examinations made, this condition which was mimicking a tumour, suggested that with ageing the accumulation of homogentisic acid had advanced to the diaphysis.
Özet
Alkaptonüri doğumsal homogentisik asit oksidaz enzim eksikliğinin neden olduğu otozomal resesif geçişli nadir bir metabolik hastalıktır. Yazımızda alkaptonüri ve okronozis tanısıyla kliniğimizde takip ettiğimiz iki kardeşten biri olan 62 yaşındaki erkek olgu sunuldu. Homogentisik asit birikimi nedeniyle hastada vertebrayı da içeren multipl eklem tutulumu mevcuttu. İleri evre bilateral diz osteoartriti nedeniyle olguya iki farklı seansta total diz artroplastisi uygulandı. Farklı olarak literatürde daha önce belirtilmeyen ve diafizde yaygın litik görünüme neden olan izole tibia tutulumu gözlendi. Yapılan incelemeler sonucu tümörü taklit eden bu durumun, homogentisik asit birikiminin yaşla birlikte diafize ilerlediğini düşündürdü.