In the April issue of the ARCHIVES, Moghadasian et al1 published a mini-review dealing with a new appraisal of cerebrotendinous xanthomatosis (CTX). Concerning the diverse manifestations of this potentially treatable disease, the authors stressed that the association of bilateral juvenile cataracts with chronic diarrhea may represent the earliest clinical manifestation of CTX2 and that unexplained bilateral cataracts with chronic diarrhea are the features that suggest this diagnosis before the onset of neurologic disease.3 I fully agree with these statements but would like to add the references of the studies in which these conclusions were made.
Cruysberg JRM. Cerebrotendinous Xanthomatosis: Juvenile Cataract and Chronic Diarrhea Before the Onset of Neurologic Disease. Arch Neurol. 2002;59(12):1975. doi: