Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings

Abstract

Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues. It is manifested by various neurological and non-neurological symptoms. The characteristic imaging features and clinical symptoms can help to make an early diagnosis and induce timely treatment to prevent neurological sequelae. The authors present two adults with differing clinical symptoms, whose imaging provided pivotal cues in diagnosing cerebrotendinous xanthomatosis.