Abstract | November 17, 2023
Trauma Management in 25-Year-Old female with Klippel Feil Syndrome
Learning Objectives
- Upon completion of this case presentation, the audience should understand how high energy blunt trauma mechanism superimposed on Klippel Feil Syndrome can complicate trauma management.
- Upon completion of this case presentation, the audience should comprehend how abnormal cervical vertebral anatomy makes Klippel Feil patients more prone to spinal cord injuries.
INTRODUCTION:
Klippel Feil Syndrome is a condition that occurs when at least two cervical vertebrae have abnormally fused. It was first discovered in 1912 by Maurice Klippel and André Feil. Most people are diagnosed symptomatically or by observation close to birth. The only form of treatment is surgically correct the fused vertebrae. Patients with this syndrome typically present with a short neck, limited motility, and pain in the head and neck.
CASE PRESENTATION :
A 25-year-old female was brought to the ER for a level 1 trauma after motor vehicle collision. A fused C2/C3 vertebral body made her diagnosis definitive. She presented with intact neurological exam moving all extremities. CT head and neck showed small intraparenchymal hematomas, fractures of C2/C3 and dens, and a hypoplastic C6 vertebral body. An MRI of the c-spine shows hyperintense areas near C2 that could be a contusion. Lab testing revealed transaminitis and leukocytosis.
FINAL DIAGNOSIS:
Klippel Feil Syndrome is a congenital condition that can occur due to variety of reasons; however, the exact pathophysiology is still not known. People with a mutation in the GDF6 or GDF3 gene and fetal alcohol syndrome are more predisposed to Klippel Feil Syndrome. This rare diagnosis created complexities in the treatment plan given the complications of a MVA superimposed on Klippel Feil Syndrome. Clinicians should be aware that these patients are prone to spinal cord injuries.
MANAGEMENT/OUTCOME:
The patient was admitted to the SICU for frequent neurovascular checks. The fracture was evaluated by the neurosurgical team which deemed it to be stable due to disruption of only a single spinal column. The fracture will be managed with cervical collar with interval films to assess for stability. Neurovascular checks continued to be normal. The patient is continuing to be monitored in the SICU. An Apsen-c collar is being utilized to maintain cervical spine stabilization. She is receiving IV Keppra for seizure prophylaxis. Neurosurgery plans for interval cervical spine x-rays once extubated with a follow up in 6 weeks for repeat imaging.
References and Resources
- https://www.chop.edu/conditions-diseases/klippel-feil-syndrome#:~:text=Klippel%2DFeil%20syndrome%20forms%20in,pain%20or%20worsens%20the%20symptoms.https://my.clevelandclinic.org/health/diseases/23919-klippel-feil-syndromekfs
- https://www.ninds.nih.gov/health-information/disorders/klippel-feil-syndrome#:~:text=Klippel%2DFeil%20syndrome%20is%20a,neck%20limited%20movement%2C%20and%20pain.
