MS Study on Three Cases of Cerebrotendineous Xanthomatosis Van Bogaert-Scherer-Epstein Disease

Abstract

Cerebrotendineous xanthomatosis (CTX), or Van Bogaert-Scherer-Epstein disease, is a very rare recessive inherited disorder of biliary acids metabolism. CTX is due to a deficiency of the hepatic mitochondrial enzyme 27-sterol hydroxylase, resulting in an insufficient production of chenodeoxycholic acid (CDCA). We describe the MR brain findings of three cases of CTX with infantile onset and progressive neurological impairment, to discuss the main features of interest. The clinical diagnosis, often delayed to the third decade of life, finds confirmation in laboratory results (excessive urine excretion of biliary alcohols and increased serum cholestanol) and neuroradiologic studies. MR is the study of choice for the disease. Brain damage, is localized in the grey and white matter. The typical localization is symmetrical to the dentate nuclei that appear hypointense on SE T1, T2 and GE T2*-weighted images for calcic and hemosiderin (ferrous) deposition. The adjacent cerebellar white matter appears hypointense on T1-weighted and hyperintense on PD, T2 and FLAIR-weighted images because of necrosis, reactive astrocytosis, demyelination and axonal injuries. Our patients all showed typical MR dentate and cerebellar white matter lesions, especially the third patient. Literature reports also describe possible calcific xanthomas of choroid plexus 5, not found in our patients.