Özgür KARABIYIK, Alper ÇIRAKLI, Mustafa DEVECİ, Olcay ESER, Eyyüp Sabri ÖNCEL, Metin GÜREL, Erdal UZUN

TİBİAL DİYAFİZDE LİTİK LEZYON OLARAK GÖRÜLEN OCHRONOZİS

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.

Ochronosis Presenting As A Lytic Lesion in the Tibial Diaphysis

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.

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1. Raina S, Mahesh DM, Kaushal SS et al. Alkaptonuria and Intramedullary Calcification. J Assoc Physicians India. 2008;56:552-5.
2. Kefeli M, Tomak Y, Can B, Barış S. Arthroplasty for the treatment of joint degeneration caused by ochronosis in two cases. Acta Orthop Tr Turc. 2008;42(2):139-44.
3. Lal M, Thakur M, Kashyap S. Alkaptonric ochronosis. Orthopedics. 2014;37(12):e1141-9.
4. Bezer M, Kocaoğlu B, Güven O. Ankylosis of the spine in acase with ochronosis. Acta Orthop Tr Turc. 2003;37(4):344-7.
5. Unlu I, Nacir B, Ulaslı AM, Erdem HR. Ochronotic Spondylosis and Arthropathy: Case Report. Fırat Med J. 2008;13(3):220- 3.
6. Jajic Z, Jajic I, Nemcic T. Deposition of homogentisic acid in long bones with diaphyseal lytic changes in a patient with ochronosis. Acta Clin Croat. 2000;39:117-9.
7. Than P, DeJonge T, Szabo G, Kustos T, Gomori E. Multiple familiar occurrence of ochronotic arthropathy. Orthopedics. 1998;21:590-2.
8. Kocyigit H, Gurgan A, Terzioglu R, Gurgan U. Clinical, radiographic and echocardiographic findings in a patient with ochronosis. Clin Rheumatol. 1998;17:403-6.
9. Kural C, Cetinus EM, Kural A, Ugras AA, Kaya I. Knee ochronotic arthropathy and arthroscopic findings. Acta Orthop Tr Turc. 2009;43(1):67-71.