Surgical Treatment of a Patient With Multiple Fractures of the Thoracic and Lumbar Vertebrae Associated With Hajdu – Cheney Syndrome

Abstract

A clinical case of surgical and multimodal conservative treatment of an 11-year-old female patient with Hajdu – Cheney syndrome with multiple vertebral fractures in the thoracic and lumbar spine is presented. The main and significant manifestations of this syndrome are osteoporosis and acroosteolysis. After the injury, the child underwent correction of posttraumatic spinal deformity and stabilization of spinal motion segments by a placement of multi-anchor instrumentation through a posterior approach. The long-term postoperative period was characterized by the absence of bone block formation, development of distal junctional kyphosis and scoliotic deformity, which required additional surgical intervention in the amount of elongation of instrumentation and correction of the developed curvature. The paper describes in detail the clinical manifestations of the syndrome, the results of surgical treatment, and clinical and radiological characteristics.

Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report

“…At the musculoskeletal level, in addition to osteoporosis and acroosteolysis, craniofacial alterations are observed, as in the cases described by Letchumanan et al [ 14 ], Stathopoulos et al [ 42 ] and Nunziata et al [ 43 ]. Biconcave vertebrae are also seen in the cases described by Vissarionov et al [ 44 ] and Chawla [ 45 ].…”

Hajdu-Cheney Syndrome: Report of a Case in Spain

“…The disease progresses over time, a fact which is most noticeable in the deterioration of the musculoskeletal apparatus. This patient presented deformities of the hands, such as those described by Jiménez et al [41] Shurtleff et al [42] Brown et al [10] and Ventosa et al [43]; of the feet, such as those described by Greenberg et al [44] and Colmenares Roldán et al [45]; of the knees, as discussed by Weleber et al [40]; and of the spine, reported by Vissarionow et al [46] and Chawla [47]. This worsening at a skeletal level is accompanied by a considerable loss of strength that increases the disabling nature of the syndrome.…”

Craniospinal Surgery in Hajdu-Cheney Syndrome: A Review of Case Reports

“…Their patient began IV bisphosphonate infusions every three months for two years following surgery before transitioning to infusions every six months. They reported no issues with fusion failure or osteolysis of fusion mass but described distal junctional kyphosis at four years postoperatively [11].…”

“…Case 9 [11] Background: Vissarionov et al published an article in 2019 detailing the case of a seven-year-old female with HCS who presented after a fall with back pain in her thoracic spine radiating to the lumbar spine. Her neurologic exam was unremarkable.…”