AUTHORS: Delgado N, Carroll JJ, Meyers PM.

We report a case of an 8-year-old girl with posterior fossa abnormalities, haemangioma, arterial lesions, cardiac abnormalities or coarctation of the aorta and eye abnormalities syndrome with right carotid aplasia and complete basilar occlusion. The patient initially presented at 2.5 weeks of age with a growing right facial haemangioma involving segments 1, 3 and 4. Initial MRI at 2.5 weeks of age revealed an extraconal right orbital haemangioma without posterior fossa abnormalities and MR angiography (MRA) 3 weeks later showed right internal carotid aplasia. A follow-up MRA and cerebral angiography at 8 years of age revealed a complete occlusion of the basilar artery that was not appreciated on previous imaging. Neurological function remains normal, meeting all age-appropriate milestones.

BMJ Case Rep. 2017;2017. PMID: 28814594