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.
- congenital disorders
- interventional radiology
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Contributors All persons who meet authorship criteria are listed as authors, and all authors certify that they have participated sufficiently in the work to take public responsibility for the content, including participation in the concept, design, analysis, writing or revision of the manuscript. Conception and design of study: PMM. Acquisition of data: ND, JJC. Analysis and/or interpretation of data: ND, JJC, PMM. Drafting the manuscript: ND, JJC, PMM. Revising the manuscript critically for important intellectual content: ND, PMM. Approval of the version of the manuscript to be published: ND, JJC,PMM.
Competing interests None declared.
Patient consent Obtained from guardian.
Provenance and peer review Not commissioned; externally peer reviewed.
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