Infliximab in the treatment of hepatic vein thrombosis (Budd-Chiari syndrome) in three patients with Behcet's syndrome.

Magnetic resonance imaging of the brain showed bilateral hyperintensity of the nucleus dentatus on T2-weighted sequences (Fig. 2). A concurrent brain SPECT demonstrated generalized cortical hypoperfusion. Treatment with chenodeoxycholic acid 750 mg/day was started. One of the most characteristic signs of cerebrotendinous xanthomatosis is the remarkable tendon enlargement due to fat deposition (xanthomas); the Achilles tendon is frequently affected (Fig. 1). A history of chronic diarrhoea and cataracts has been reported in previous published cases; hence, cerebrotendinous xanthomatosis should be ruled out in young patients presenting with these two clinical manifestations [1]. Frontal dementia has also been described in cerebrotendinous xanthomatosis [2], usually together with other neurological findings (pyramidal signs, seizures, mental retardation, and cerebellar ataxia). Cerebrotendinous xanthomatosis is a rare recessive autosomal disease caused by mutations of the sterol 27-hydroxylase gene (CYP27 ) that lead to reduced synthesis of bile acids, particularly chenodeoxycholic acid [3]. Absence of the negative feedback mechanism of cholic acid and chenodeoxycholic acid on 7a-hydroxylase, which is a rate-limiting enzyme in bile acid synthesis, increases the activity of this enzyme and results in an accumulation of cholesterol and cholestanol in various tissues, which is the cause of the clinical manifestations. Long-term treatment with chenodeoxycholic acid, which influences the negative feedback of cholesterol and acid bile synthesis and decreases serum cholestanol levels, can arrest or even reverse progression of the disease. We stress the value of early diagnosis to halt the progressive neurological deterioration associated with this condition. Rheumatologists should be conscious of the existence of cerebrotendinous xanthomatosis. Clinical recognition is not difficult if one is aware of this rare disease.