Gonzalo Mariscal1, Pedro Domenech2, Marta Salom2. 1. Pediatric Orthopedics and Trauma Unit, Department of Orthopedic Surgery and Traumatology, La Fe University and Polytechnic Hospital of Valencia, Valencia, Spain. Gonzalo.mariscal@mail.ucv.es. 2. Pediatric Orthopedics and Trauma Unit, Department of Orthopedic Surgery and Traumatology, La Fe University and Polytechnic Hospital of Valencia, Valencia, Spain.
Abstract
BACKGROUND: Pycnodysostosis is a rare autosomal recessive lysosomal disorder of bone characterized by diffuse skeletal condensation with thickening of the cortex and narrowing of the medullary canal. CASE PRESENTATION: We present the case of a 4-year-old girl diagnosed with pycnodysostosis and associated pathological tibial fracture. The tibia had an absence of medullary canal. Surgery included reduction and reaming of the canal with placement of a 5 mm diameter telescopic growing nail. CONCLUSION: The presentation of pycnodysostosis as tibial fracture is rare and there is limited literature on its management. We showed its approach focusing mainly on the management of the absent medullary canal.
BACKGROUND: Pycnodysostosis is a rare autosomal recessive lysosomal disorder of bone characterized by diffuse skeletal condensation with thickening of the cortex and narrowing of the medullary canal. CASE PRESENTATION: We present the case of a 4-year-old girl diagnosed with pycnodysostosis and associated pathological tibial fracture. The tibia had an absence of medullary canal. Surgery included reduction and reaming of the canal with placement of a 5 mm diameter telescopic growing nail. CONCLUSION: The presentation of pycnodysostosis as tibial fracture is rare and there is limited literature on its management. We showed its approach focusing mainly on the management of the absent medullary canal.