Congenital instability of cervical spine in a pediatric patient with cleft lip and palate

Introduction: Cervical spine anomalies can coexist with anomalies of the head and neck. The association of cervical vertebrae anomalies (CVA) with cleft lip and palate (CLP) has been described as probably the result of a failure in normal embryological segmentation. The most frequent congenital alterations of cervical spine CLP-related are vertebral fusion (VF) and deficiency of the posterior arch (PAD). Case Presentation: We report a case of an acute, non-traumatic onset of paraparesis in a 14 years old girl with history of CLP and bilateral conductive deafness. Magnetic resonance (MR) and Computed Tomography (CT) imaging of the cervical spine revealed C4-C5 myelopathy sign and a misunderstood C2-C3 and C5-C6 partial posterior VF. A C2 deficiency of the posterior arch was also present. Dynamic X-Rays showed a junctional instability of C4-C5 metamers. The patient was surgically treated with anterior cervical discectomy and fusion (ACDF) with immediate improvement of the symptoms. Conclusions: The new onset of spinal cord involvement in pediatric patients with a history of head and neck developmental disorder could be ascribed to congenital cervical spine malformation and therefore should be detected by appropriated radiological imaging as early as possible to optimize surgical management and reducing the risk of neurological impairment.