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Cerebrotendinous Xanthomatosis Involving the Cauda Equina 2004

Kalina, Peter, M.D., Campeau, Norbert, M.D.

Excerpta:
A 41 year old male from Kuwait presented with progressive imblance, lower extremety weakness and difficulty walking. Physical exam revealed spasticity, hyperreflexia, upgoing toes, vibratory sensory loss, pes cavus and hammer toes. He has had nodular growths on his Achilles tendons since childhood. At age 23 he developed bilateral cataracts. EMG was consistent with a sensorimotor peripheral neuropathy. The combination of physical examination, history, EMG and laboratory findings were compatible with the diagnosis of cerebrotendinous xanthomatosis (CTX).

MRI of the lumbosacral spine revealed diffuse thickenng of the cauda equina nerve roots. Findings are consistent with change s of peiheral neuropathy. No associated abnormal enhancment. Cervical spine and brain MRI were normal.

CTX is a rare inherited disorder involving the metabolic pathway of cholesterol. The classic clinical triad includes tendon xanthomas, juvenile cataract and progressive neurological impairment. There are about 300 reported cases. Early diagnosis is critical as treatment with chenodeoxycholic acid may stop the deterioration and improve neurological function.

We were unable to find any other cases of CTX with MRI findings of diffuse cauda equina nerve root thickening. Although this finding may be seen with other peripheral neuropathies, in the appropriate clinial setting, CXT should be considered in the differential diagnosis of diffuse cauda equina thickening.