Cerebrofacial Venous Metameric Syndrome Type II in an 18-Year-Old Girl: A Case Report from Pakistan

Abstract

Cerebrofacial metameric syndrome (CMS) is a rare neurocutaneous disorder involving congenital anomalies of facial and cerebral angiogenesis. There are four separate types that differ based on the metameric sequences involved and can involve arterial or venous abnormalities.

This retrospective case report is centered around one female patient who presented with right infraorbital edema that progressed over a 2-month period. The edema was nonpulsatile, nontender, and associated with purple discoloration. Further imaging demonstrated a subcutaneous mass that was 2.5 × 2 × 3.2 cm in size with multiple internal flow voids in all sequences that ruled out any soft tissue or malignant features. There was a lack of medullary veins appreciated in surrounding brain regions. Surgery was offered for cosmesis, and the patient exhibits decreased edema with no neurological deficits at the latest follow-up.

The presentation of a patient with CMS is rare. While there may be differences in angiographic signatures and involved brain regions, the abnormality's vascular supply is of the utmost importance for surgical planning. Definitive treatment options exist for patients but are determined appropriately on a case-by-case basis. Outcomes are optimized with a multidisciplinary team that maximizes safety and considers cosmesis for those interested.