The Big Brain Theory: A Review of Overgrowth Syndromes for the Neuroradiologist

Abstract

Overgrowth syndromes are a generally rare and diverse spectrum of disease states related to genetic mutations regulating cell growth and metabolism, resulting in pathologic overgrowth of anatomic structures. Due to their rarity, radiologists may be generally unfamiliar with these diseases. Furthermore, the complexity of these conditions may pose a challenge to clinicians seeking to understand these syndromes. In this review, we provide an overview of the common imaging findings of overgrowth syndromes for the neuroradiologist with an additional emphasis on predisposition to malignancy. Understanding the most common neuroimaging findings and considerations associated with overgrowth syndromes helps to provide the highest quality of care to these patients by equipping the radiologist with the skills to actively search for characteristic disease manifestations and complications.Learning Objective: To identify the neuroimaging findings in overgrowth syndromes