Cerebrofacial vascular metameric syndrome associated with Moyamoya syndrome: a rare case report

Neural crest and mesoderm cell dysfunction of certain metameric level result in vascular malformations, i.e., cerebrofacial arteriovenous metameric syndrome (CAMS) and cerebrofacial venous metameric syndrome (CVMS). Moyamoya disease is a progressive steno-occlusive disease in the terminal portions of the bilateral internal carotid artery. The patient in this case report was a child with cerebrofacial vascular metameric syndrome, associated with moyamoya syndrome. Child, 7 months old, female, admitted to the emergency department with seizures, hemangioma on the right half of the face (forehead, upper eyelid, and upper lip), and left hemiparesis. The magnetic resonance imaging of the skull indicated increased myelination in the right hemisphere (T2) and atrophy compatible with Sturge-Weber syndrome. Cerebral angiography indicated vasculopathy with bilateral moyamoya pattern, associated with other arteriovenous malformations compatible with cerebrofacial vascular metameric syndrome. Moyamoya syndrome was treated with indirect revascularization (pial synangiosis) achieving good outcomes. Vascular malformations can involve the orbits, face, and brain simultaneously. CAMS with forebrain or hindbrain involvement can be classified into subgroups: I, II, and III. On the other hand, venous malformations in Sturge-Weber syndrome or encephalotrigeminal angiomatosis can be considered CVMS. Moyamoya disease is called syndrome when related to another clinical condition, such as the present case, i.e., neurocutaneous Sturge-Weber syndrome. The association of chronic moyamoya vasculopathy with cerebrofacial vascular metameric syndrome is rare. Further studies are required to establish the best treatment approach.