Management of an Ulnar Nonunion in a Pediatric Case with Rothmund-Thompson Syndrome

Öz

Introduction: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma, short stature, juvenile cataracts, sparse hair, skeletal abnormalities, and a predisposition to osteogenic sarcomas and skin cancers. While numerous skeletal abnormalities have been described in patients with Rothmund-Thomson syndrome, nonunion cases are rarely reported in the literature. Case report: In this study, we present the case of a patient with RTS who sustained a combined ulna and radius fracture in the proximal forearm after a simple fall. The patient was followed for four months with titanium elastic nails, but despite union of the radius, nonunion of the ulna was observed. A second trauma later resulted in re-displacement of the old fracture line of the ulna. The patient subsequently underwent stable fixation with plate and screw fixation, received additional medical treatment, and union was achieved. Conclusion: With our report, we hope to increase practitioner awareness that delayed bone healing may be a possibility in RTS patients and to encourage consideration of routine imaging and calcium and vitamin D supplementation.

Anahtar Kelimeler

• Rothmund-Thompson Syndrome
• forearm fracture
• nonunion
• pediatric injury

Rothmund-Thompson Sendromlu Pediatrik Bir Vakada Ulnar Kaynamama Yönetimi

Öz

Giriş: Rothmund-Thomson sendromu (RTS), poikiloderma, boy kısalığı, juvenil katarakt, seyrek saç, iskelet anomalileri ve osteojenik sarkomlar ile cilt kanserlerine yatkınlık ile karakterize nadir görülen otozomal resesif bir genodermatozdur. Rothmund-Thomson sendromlu hastalarda çok sayıda iskelet anomalisi tanımlanmış olmakla birlikte, literatürde kaynamama vakaları nadiren bildirilmiştir. Olgu sunumu: Bu çalışmada, basit bir düşme sonrası proksimal ön kolda ulna ve radius kemiğinin birlikte kırıldığı RTS'li bir hastayı sunuyoruz. Hasta dört ay boyunca titanyum elastik çivilerle takip edildi, ancak radius kemiğinde kaynama olmasına rağmen ulna kemiğinde kaynamama gözlendi. Daha sonra ikinci bir travma, ulna kemiğinin eski kırık hattının tekrar yer değiştirmesine neden oldu. Hastaya daha sonra plak ve vida ile stabil fiksasyon uygulandı, ek tıbbi tedavi uygulandı ve kaynama sağlandı. Sonuç: Raporumuzla, RTS hastalarında gecikmiş kemik iyileşmesinin bir olasılık olabileceği konusunda uygulayıcıların farkındalığını artırmayı ve rutin görüntüleme ve kalsiyum ve D vitamini takviyesinin dikkate alınmasını teşvik etmeyi umuyoruz.

Anahtar Kelimeler

• Rothmund-Thompson Sendromu
• ön kol kırığı
• kaynamama
• pediatrik yaralanma

Kaynakça

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