Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.

BACKGROUND: Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy. CASE CHARACTERISTICS: 10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy. OUTCOME: Sterol analysis and CYP27A1 sequencing confirmed the diagnosis. MESSAGE: The condition should be considered in childhood onset cerebellar ataxia with cataracts, even in the absence of skin signs.