Indian Pediatrics 2016-Oct
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.
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Abstrakti
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.
UNASSIGNED
10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy.
RESULTS
Sterol analysis and CYP27A1 sequencing confirmed the diagnosis.
UNASSIGNED
The condition should be considered in childhood onset cerebellar ataxia with cataracts, even in the absence of skin signs.
