Magnetic resonance imaging of the brain and spinal cord in cerebrotendinous xanthomatosis.
case_report · Level V
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- Record sourced from PubMed, PMID 2107278.
- Also identified by PMC identifier 487959.
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Abstract
This reports a 40 year old man with cerebrotendinous xanthomatosis who had bilateral cataracts, enlarged Achilles tendons, progressive dementia, gait disturbance and peripheral neuropathy. Electroencephalography, electromyography, and magnetic resonance imaging (MRI) of the brain and spine were performed. Magnetic resonance imaging revealed cerebral, cerebellar and cervical cord atrophy and white matter involvement in the cerebrum and cerebellum correlating well with the clinical findings. To date there has been one previous report of MRI of the brain in cerebrotendinous xanthomatosis and none of the spinal cord.
Medical subject headings
- Achilles Tendon
- Brain
- Brain Diseases, Metabolic
- Cholestanol
- Cholesterol
- Magnetic Resonance Imaging
- Spinal Cord
- Xanthomatosis