Cerebrotendinous Xanthomatosis with Lung Involvement and Acquired Ichthyosis

Abstract

We report a case of a 28-year-old man with xanthomas over the extensors of the limbs, cataract, chronic diarrhea and various neurological disabilities. There was also an ichthyosis, which predominate over the lower limbs. Chest CTscan showed bilateral apical opacities with cystic images in the culmen. Brain MRI revealed bilateral and symmetric T2 and FLAIR hyper-signals sequences in the region of dentate nucleus and adjacent cerebellar and periventricular white matter. We have reported the first case of CTX in Senegal, which is remarkable by an acquired ichthyosis and excavated lung lesions simulating a tuberculosis.