Email updates

Keep up to date with the latest news and content from BMC Musculoskeletal Disorders and BioMed Central.

Open Access Case report

Pathological fracture of the femur in Alagille syndrome that was treated with low-intensity pulsed ultrasound stimulation and an Ilizarov ring fixator: a case report

Koji Nozaka1*, Yoichi Shimada1, Naohisa Miyakoshi1, Shin Yamada1, Yuji Kasukawa1 and Atsuko Noguchi2

Author Affiliations

1 Department of Orthopedic Surgery, Akita University Graduate School of Medicine, Hondo, Akita 010-8543, Japan

2 Department of Pediatrics, Akita University Graduate School of Medicine, Hondo, Akita 010-8543, Japan

For all author emails, please log on.

BMC Musculoskeletal Disorders 2014, 15:225  doi:10.1186/1471-2474-15-225

Published: 8 July 2014

Abstract

Background

Alagille syndrome is a multisystem disorder, which is characterized by hypoplasia of the intrahepatic bile ducts, malformations of the cardiovascular system, eyes, and vertebral column, and abnormal facies. Several of the characteristics of Alagille syndrome may result in an especially high risk of fracture. The majority of patients suffer from chronic cholestasis, which can have a variety of adverse effects on bone metabolism. In Alagille syndrome, fractures primarily occur in the lower limb long bones in the absence of significant trauma.

Case presentation

A 9-year-old Japanese girl with Alagille syndrome was admitted to our institution with marked hyperbilirubinemia and a pathological fracture of the femur. She had been diagnosed with biliary atresia at the age of 1 month and treated with surgical bile duct reconstruction, vitamins D and K, and ursodeoxycholic acid. However, her liver dysfunction and hyperbilirubinemia worsened. The pathological fracture of the femur was treated with low-intensity pulsed ultrasound stimulation (LIPUS) and an Ilizarov ring fixator. Seventy-four days after surgery, the patient had anatomically and functionally recovered. There was no leg-length discrepancy and no angular malalignment of the lower extremities as measured clinically and radiographically. The range of motion of the hip, knee, and ankle of the patient’s operative leg matched the range of motion in the nonoperative leg.

Conclusion

To the best of our knowledge, there are no reports on use of the Ilizarov frame and LIPUS in diaphyseal femoral fractures in Alagille syndrome. This case report provides evidence that this procedure is successful for managing such diaphyseal fractures in Alagille syndrome.

Keywords:
Alagille syndrome; Low-intensity pulsed ultrasound stimulation (LIPUS); Ilizarov ring fixator