Genetically and Clinically Confirmed Atypical Cerebrotendinous Xanthomatosis with Normal Cholestanol and Marked Elevations of Bile Acid Precursors and Bile Alcohols

Cerebrotendinous xanthomatosis (CTX, OMIM 213700) is a rare autosomal recessive disorder associated with deficiency of the CYP27A1 enzyme (sterol 27-hydroxylase), encoded by the CYP27A1 gene1, 2. The presentation of clinical features in CTX is complex, with heterogeneous symptoms, variable severity and evolution of complications, and diverse differences in progression of disease even within the same family1, 2. In a series of 43 cases in the United States, the mean age at diagnosis was 32 years3. In these patients, 53% experienced chronic diarrhea in childhood, 74% had cognitive impairment in childhood adolescence, 70% were diagnosed with premature cataracts in adolescence, 77% developed tendon xanthomas by the age of 25 years, and 81% experienced neurologic disease beginning in the third or fourth decade of life (range 20-40 years of age)3.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Tags: Original Research Source Type: research