title: 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.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Orthopedic Surgery, Akita University Graduate School of Medicine, Hondo, Akita 010-8543, Japan. kk-nozaka@mue.biglobe.ne.jp.
authors.forename: Koji
authors.initials: K
authors.lastname: Nozaka
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Shimada
authors.forename: Naohisa
authors.initials: N
authors.lastname: Miyakoshi
authors.forename: Shin
authors.initials: S
authors.lastname: Yamada
authors.forename: Yuji
authors.initials: Y
authors.lastname: Kasukawa
authors.forename: Atsuko
authors.initials: A
authors.lastname: Noguchi
mesh_terms: D016738:Alagille Syndrome / Q000150:complications* / Q000175:diagnosis; D002648:Child; D003131:Combined Modality Therapy; D016267:External Fixators; D005260:Female; D005264:Femoral Fractures / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D017102:Fracture Healing; D005598:Fractures, Spontaneous / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D006801:Humans; D018889:Ilizarov Technique / Q000295:instrumentation*; D011474:Prosthesis Design; D016896:Treatment Outcome; D014464:Ultrasonic Therapy