İbrahim Deniz CANBEYLİ, Meriç ÇIRPAR, Birhan OKTAŞ, Cüneyt Emre ÖKKEŞİM

Piknodisostozis: Uzun Kemik Kırıklarında Kanal İçi Çivilemenin Cerrahi Zorlukları: Vaka Sunumu

Osteopetrosis akro-osteolotika olarak da bilinen piknodisostozis, otozomal resesif kalıtım özelliği gösteren, nadir görülen sklerotik bir kemik hastalığıdır. Hastalığın karakteristik özellikleri boy kısalığı, kraniyel sütürlerin geç kapanması, falanksların tam ya da kısmi displazisi, mandibula köşelerinin geniş açılı olması, iskelet anomalileri ve artmış kemik yoğunluğudur. Bu hastalarda, lizozomal sistein proteaz ve katepsin K enzim defektleri nedeniyle kırılgan kemik oluşumuna neden olan tip I kollajen katabolizması ve kemik rezorbsiyon defektleri mevcuttur. Bu makalede, sol subtrokanterik femur kırığı gelişmiş olan piknosiostozisli 45 yaşında bir hasta bildirilmektedir. Amacımız, piknodisostozis hastalarında uzun kemik kırıklarının kanal içi çivilenmesi sırasında karşılaşılan zorlukları gözden geçirmektir.

PYCNODYSOSTOSIS: SURGICAL CHALLENGES OF INTRAMEDULLARY NAILING FOR LONG BONE FRACTURES: A CASE REPORT

Pycnodysostosis, known as osteopetrosis acro-osteolytica, is a rare sclerotic bone disease with an autosomal recessive heritage pattern. Characteristic features of the disease are short stature, delayed closure of cranial sutures, partial or total dysplasia of the phalanges, obtuse mandibular angle, skeletal abnormalities and increased bone density. Type I collagen catabolism and bone resorption are defective in these patient due to lysosomal cysteine protease and cathepsin K enzyme defects resulting in dense and more brittle bones. Herein, we report a 45-year-old pycnodysostozis patient with a subtrochanteric transverse fracture of the left femur. We aim to reveal the difficulties encountered during intramedullary nailing of long bone fractures of patients with pycnodysostosis.

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