• Massimiliano Braga, Massimo Pederzoli, Sandro Beretta, Massimo Ferrarini, Paola Canovaro, Guido Arpaia, and Vittorio Crespi.
• U.O. di Neurologia, Ospedale Civile di Vimercate, Vimercate, Milan, Italy. milanobraga@hotmail.com
• Spine. 2009 Sep 15; 34 (20): E740-2.

Study DesignCase report.ObjectiveTo describe the case of a Klippel-Feil anomaly associated with carotid agenesis.Summary Of Background DataKlippel-Feil anomaly is a spinal malformation characterized by fusion of the cervical vertebrae. Four subtypes have been identified for this congenital disorder with different severity of vertebral fusion and different extra-axial anomalies. Most cases are sporadic, although autosomal dominant and autosomal recessive cases are recognized. It can cause neurologic disorders and is associated to vascular abnormalities. However, agenesis of internal carotid and Klippel-Feil syndrome is an unusual association.MethodsA 49-year-old woman came to our attention for recurrent transitory ischemic attacks presenting with weakness of left limbs associated with sensory abnormalities. Neurologic examination revealed mild left limb weakness and tactile hypoesthesia.ResultsBrain magnetic resonance (MR) and MR angiography demonstrated absence of the right internal carotid and the middle right cerebral artery was filled from the basilar artery. Fusion of vertebral bodies was documented at MR and confirmed at spinal CT scan. The day after the admission the neurologic examination became normal. Ticlopidine was then started.ConclusionLiterature of vascular abnormalities in association with Klippel-Feil syndrome takes the form of anecdotal reports. Aortic coarctation, vertebral artery dissection, aneurysms, persistent trigeminal artery, and abnormal origin of internal carotid are described. An unusual association of carotid internal agenesis and Klippel-Feil syndrome is reported with a literature review.

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