TITLE:
Intermittent Transient Quadriparesis in an Adolescent with Klippel-Feil Syndrome
AUTHORS:
Charles Taylor, Ebrahim Izadi, Suzan Kayitesi, Henry Bowyer, Jasem Merza, Zacharia Silk, Bahram Fakouri
KEYWORDS:
Klippel-Feil Syndrome, Quadriparesis, Cervical Myelopathy, Spinal Instability, ACDF
JOURNAL NAME:
Open Journal of Modern Neurosurgery,
Vol.16 No.3,
July
6,
2026
ABSTRACT: Background: Klippel-Feil syndrome (KFS) is a rare congenital condition characterised by segmentation failure of the cervical spine, resulting in vertebral fusion and altered biomechanics. Patients may remain asymptomatic or present with neurological complications. The classic clinical triad (short neck, low posterior hairline, restricted cervical range of motion) is historically associated with KFS, but many individuals do not exhibit all three features and diagnosis is therefore frequently missed or delayed. Case Presentation: We report a 17-year-old male with previously undiagnosed KFS who presented with recurrent episodes of transient quadriparesis following minor head trauma. Initial CT imaging demonstrated multilevel congenital cervical fusion. Retrospective history revealed a three-year pattern of transient neurological deficits triggered by cervical extension. Subsequent specialist assessment identified upper motor neuron signs and dynamic instability at C4/5. MRI demonstrated severe canal stenosis with near-complete cerebrospinal fluid effacement and focal intramedullary T2 hyperintensity consistent with cervical myelopathy. The patient underwent single-level anterior cervical discectomy and fusion (ACDF) at C4/5 with instrumentation. Early postoperative recovery was uncomplicated. Conclusion: This case highlights the risk of delayed diagnosis of clinically significant instability in adolescents with KFS presenting with transient neurological symptoms. Recognition of congenital segmentation anomalies at initial presentation should prompt continued immobilisation, advanced imaging, and early specialist referral. Timely surgical decompression and stabilisation may prevent progression to irreversible spinal cord injury. Increased awareness of KFS in emergency settings is essential to avoid missed or delayed diagnosis.