Cerebrotendinous Xanthomatosis

Abstract

TENDINOUS and tuberous xanthomas have been almost exclusively associated with hyperlipidemic states. Such lesions have been studied intensively for the past 100 years, but only in very rare instances are they associated with similar xanthomatous lesions of the central nervous system (CNS). In 1937, van Bogaert et al 1 described two paternal cousins with cholesterinosis involving tendons, lung, and the CNS. The autopsy findings in the first patient were reported in the original monograph, 1 but the second patient did not die until 1949. 2 Biopsies of tendons in two additional cases were described by Epstein, 3,4 but no studies of brain or serum lipids were available. We recently had an opportunity to study two individuals with symptoms and physical findings similar to those originally reported by van Bogaert et al. 1 One of our patients died, permitting pathological verification of this rare disease. In our cases, serum cholesterol levels