Autosomal Dominant Dandy-Walker Malformation with Occiptal Encephalocele (ADDWOC): A Review of the Literature and Exploration of Implications

Abstract

Autosomal Dominant Dandy-Walker Malformation with Occipital Encephalocele (ADDWOC), is a potentially fatal and extremely rare neurodevelopmental anomaly, with only thirty-three reported cases since 1887. It has been implicated that this malformation is associated with a genetic mutation that causes improper formation of the brain and surrounding tissues. By examining scientific literary journals and previous case studies, this presentation will attempt to inform an interdisciplinary audience about ADDWOC, symptoms associated with it, the mechanism by which it arises, possible treatment options, and the broader implications ADDWOC might hold in the scientific and medical community.