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Computed tomography in cerebrotendinous xanthomatosis

Neurology Department (Dr. V. Berginer) and the Radiology Department (Dr. J. Berginer), Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University of Negev, Beer-Sheba, Israel; the Saul R. Korey Department of Neurology (Dr. V. Berginer), Albert Einstein College of Medicine, Bronx, NY; the Gastroenterology Section (Dr. Salen), Veterans Administration Hospital, East Orange, NJ; the Department of Medicine (Dr. Shefer), College of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, NJ; and the Department of Radiology (Dr. Zimmerman), Neuroradiology Section, Montefiore Hospital and Medical Center, Bronx, NY.

Address correspondence and reprint requests to Dr. Berginer, Neurology Department, Soroka Medical Center and Ben Gurion University Hospital, Beer-Sheba, P.O.B. 151, Israel.

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.

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