Table 3.

Cerebrotendinous Xanthomatosis: Frequency of Select Features

Feature% of Persons w/Feature
Infantile-onset diarrhea40%
Childhood-onset cataract89%
Adolescent- to young adult-onset tendon xanthomas78%
Cardiovascular findings25%
Osteopenia67%
Adult-onset progressive neurologic dysfunctionIntellectual disability60%
Psychiatric disturbances44%
Ataxia36%
Spastic paraparesis64%
Parkinsonism9%
Peripheral neuropathy70%
Seizures33%

From: Cerebrotendinous Xanthomatosis

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