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 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.