An Aggressive form of Cerebrotendinous Xanthomatosis

Abstract

This 34-year-old man presented to our clinic with progressive gait difficulties and swelling of his tendons. On examination, he had bilateral ataxia, upper motor neuron signs, and tumors in his tendons (Figure 1 A-C). Brain MRI showed diffuse Encephalopathy (Figure 1, D-F). Cerebrotendinous Xanthomatosis was diagnosed after genetic testing confirmed the presence of pathogenic variants on the CYP27A1 gene. Cerebrotendinous Xanthomatosis is a rare, potentially treatable autosomal recessive disorder characterized by impairment of the hepatic conversion of cholesterol to chenodeoxycholic acid, leading to massive deposition of cholestanol in organs. It presents with xanthomas, juvenile cataracts, and progressive neurological dysfunction (1).