Facial hemangioma with cerebrovascular anomalies and cerebellar hypoplasia.
A 5-year-old female patient with a left facial strawberry nevus, ipsilateral optic atrophy and cerebellar signs was observed. Computed tomography and cerebral angiography confirmed left cerebellar hypoplasia and cerebrovascular abnormalities such as internal carotid arterial stenosis, basilar artery occlusion, and a saccular aneurysm of left carotid siphon, all of which are presumed to develop congenitally. This case may represent a new variety of neurocutaneous syndrome which is different from other syndromes associated with facial hemangioma, such as the Sturge-Weber syndrome and the Wyburn-Mason syndrome.
D002531:Cerebellum / Q000002:abnormalities*; D002533:Cerebral Angiography; D002675:Child, Preschool; D005153:Facial Neoplasms / Q000151:congenital* / Q000175:diagnosis; D005260:Female; D006392:Hemangioma, Cavernous / Q000151:congenital* / Q000175:diagnosis; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed