Cerebrotendinous Xanthomatosis in a 10 yr old without skin c
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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.......

http://www.indianpediatrics.net/oct2016/oct-917-919.htm
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