Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings

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 manifested by various neurological non-neurological symptoms. The characteristic imaging features clinical symptoms can help make an early diagnosis induce timely treatment prevent sequelae. authors present two adults with differing symptoms, whose provided pivotal cues diagnosing cerebrotendinous xanthomatosis.