Vertebral Artery Dissection in a Case of Klippel–Feil Syndrome

Introduction

Klippel–Feil syndrome (KFs) is a rare disease characterized by multiple fusion anomalies of the cervical vertebral bodies resulting in neck shortening, appearance of low hairline, and limited range of neck motion. This classic clinical triad is only present in almost half of the cases. Patients with KFs may develop scoliosis with spinal canal stenosis as well.[1] [2]

The presence of cervical vertebral anomalies renders those patients more susceptible to spinal cord compression following minor head trauma. Associated vertebral artery dysplasia or dissection may represent other risk factors for death or permanent neurologic deficits.[3] [4]

We describe a 15-year-old boy with previously undiagnosed KFs. He was admitted to the emergency unit with Glasgow coma scale 11 of 15 and left-sided weakness. General examination revealed left-sided cervicodorsal scoliosis, torticollis, elevated left scapula (Sprengel's deformity), and arachnodactyly. Neurologic examination revealed bilateral limb tremors and gait ataxia. Ocular examination revealed torsional nystagmus.

The patient underwent emergency magnetic resonance imaging (MRI; stroke protocol) which revealed multiple infarcts within the vertebrobasilar vascular territory ([Fig. 1]). Computed tomography (CT) cerebral angiography was then performed, and the diagnosis of vertebral artery dissection was confirmed ([Fig. 2]). In addition, both styloid processes were elongated (Eagle's syndrome) with abnormal vascular loop of the internal carotid artery on the right side ([Fig. 3]) which put the patient at a greater risk for another vascular injury with devastating neurological deficit.[5]

Fig. 1 (A, B) Axial diffusion-weighted sequence demonstrates diffusion restriction at both cerebellar hemispheres, thalamus and right occipital lobe. (C, D) Axial T1-WI shows hyperintense signal (clot) involving the left vertebral artery (arrow). (D) Axial non contrast MRA demonstrates non visualized left vertebral artery; note to the normal right vertebral artery (arrow). T1WI, T1-weighted image.

Fig. 2 Cerebral CT angiography (A) Axial section shows marked narrowing of the left vertebral artery. (B) Oblique axial reformat shows thickened wall of the left vertebral artery caused by mural thrombus (subcoccipital rind sign) (arrow). (C) Axial MIP image shows that the right carotid artery forms a vascular loop around the tip of the styloid process (long arrow). The styloid process is elongated touching the carotid artery on the left side (short arrow). CT, computed tomography.

Fig. 3 Contrast enhanced CT of the head and neck with volume rendering and 3D reconstruction (A), sagittal reformat (B) show butterfly C1 vertebra (arrow) and a dextroconvex cervical scoliosis secondary to multiple vertebral segmentation anomalies (asterisk). The styloid process touches the carotid arteries on both sides (arrows). (C) CT of the chest wall with 3D reconstruction (posterior view) shows elevated left scapula and cervicodorsal scoliosis. 3D, three-dimensional; CT, computed tomography.

The patient was treated with Aspirin and enoxaparin. He began to show improvement of conscious level 2 days later. He was then discharged after 2 weeks with mild residual left-sided weakness and bilateral intention tremors.

Treatment for KFs is mainly symptomatic; surgery may be of value to correct scoliosis, craniocervical instability, or to relieve cord compression. Moreover, the patients should be instructed to avoid activities that may provoke vascular or cord injury. Some patients may benefit from applying cervical collar or back brace.

In conclusion, this case illustrates the value of imaging of children with scoliosis, torticollis, or elevated scapula to help reach early diagnosis of KFs and to avoid future risk of neurological deficit. Furthermore, cerebral CT angiography should be performed in any child with posterior fossa stroke with careful attention to associated cervical vertebral anomalies.

Authors' Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by S.A.M. The first draft of the manuscript was written by S.A.M. and S.M.A.H. All authors read and approved the final manuscript.

Ethics Approval

Ethical approval was waived by the local Ethics Committee in view of the retrospective nature of the study and all the procedures being performed were part of the routine care.

Publication History

Received: 01 April 2021

Accepted: 07 May 2021

Article published online:
07 July 2021

• References

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