ABSTRACT
INTRODUCTION: Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease. Clinical features include tendon xanthomas, premature cataracts and progressive neurologic dysfunctions. Substantial elevation of serum cholestanol and urinary bile alcohols and their precursors establishes the diagnosis. Magnetic resonance image (MRI) is useful for diagnosis of cerebral and tendinous lesions. Treatment with chanodeoxycholic acid (CDCA) has been reported to correct biochemical abnormalities and to arrest and possibility to reverse the progression of the neurologic symptoms in some patients. CLINICAL CASE: We present the case of a 34-year-old male suffering from ataxia and enlargement of both Achilles tendons suggestive of cerebrotendinous xanthomatosis. The findings of elevated serum cholestanol and urinary bile alcohols confirmed clinical suspicious. Cranial and tendinous MRI evidenced cerebral, cerebellar, medullar and tendinous lesions. The patient received treatment with CDCA for 42 months (750 mg/day), with improvement in neurologic symptoms, correction of analytical parameters and cerebellar and medullar lesions at MRI. CONCLUSION: In cerebrotendinous xanthomatosis, treatment with CDCA reduces serum cholestanol and arrest neurologic symptoms progression. In accordance with clinical evolution and analytical normalization, we point out he utility of MRI in the surveillance and response to treatment with CDCA.
