Computed tomography in cerebrotendinous xanthomatosis

In nine patients with cerebrotendinous xanthomatosis (CTX), computed tomography (CT) demonstrated diffuse white matter hypodensity above and below the tentorium. This was attributed to sterol infiltration with secondary demyelination. In one patient, a focal right cerebellar hypodense lesion reflected a true xanthoma. These findings suggest that the neurologic symptoms, no matter how longstanding, result from metabolic encephalopathy rather than irreversible destruction of brain tissue by xanthomas.