Cerebrotendinous xanthomatosis or CTX is a rare genetic disorder. It is potentially treatable with replacement therapy and hence early diagnosis before neurological deterioration is important. The imaging findings are T2W hyperintensities in the Dentate nucleus, substantia nigra, globus pallidus and the presence of tendon xanthomas which are classic and should not be missed.

From the manuscript

Cerebrotendinous xanthomatosis - The spectrum of imaging findings

Abstract
Cerebrotendinous xanthomatosis (CTX), also known as Van Bogaert-Scherer-Epstein disease is a rare autosomal recessive genetic disorder of the lipid metabolism. To date, there are less than 300 cases reported worldwide. We present a case of a 30 year old male who presented with mental retardation and swelling of ankles, with the a spectrum of CTX imaging findings. Imaging studies were performed which included plain X-ray, Ultrasound (US) and Magnetic Resonance Imaging(MRI) of both the brain and ankles. These pointed towards the diagnosis of CTX with the entire spectrum of findings which was confirmed with biopsy and laboratory findings. CTX is a potentially treatable condition with replacement therapy, and hence early diagnosis before neurological deterioration is important. This is aided by the imaging findings which are conclusive forte diagnosis of CTX.