Cerebrotendinous xanthomatosis: A multidisciplinary approach for early diagnosis

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder of bile acid metabolism which manifests in the form of variable neurological and non-neurological symptoms. Early recognition of the disease leads to a timely implementation of treatment and hence better prognosis. The early diagnosis of CTX depends on a multidisciplinary approach in which radiological imaging plays a pivotal role.