Difficult Management of a Femur Fracture in a Patient with Dyskeratosis Congenita

A Literature Review and Case Report

Abstract

Case: 

A 14-year-old boy with dyskeratosis congenita (DKC), status-post unrelated bone marrow transplant (BMT), sustained a femoral shaft fracture. Despite immediate fixation with the widest possible titanium elastic nails, fixation construct rigidity was insufficient and malunion occurred with refracture 5 years later. Revision fixation with rigid intramedullary nailing has maintained position for 1 year, although callus formation remains meager.

Conclusion: 

This is the first article to detail fracture care for a DKC patient. Although BMT increases lifespan, patients seemingly remain skeletally frail. Rigid intramedullary fixation is optimally durable and appears hematopoietically safe. Long-term follow-up is recommended.