Cerebrotendınous Xanthomatosıs: A Case Report

Abstract

A 19 year old female presented with painfull swelling in bilateral Achilles tendon, juvenil bilateral cataracts and hypercholesteremia. On physical examination, there were firm and fixed swelling with an average diameter between 2 and 3 cms, on posterior aspect of the both ankles. Magnetic resonance imaging revealed bilateral enlarged Achilles tendons in both ankles and abnormalities in supraventricular white matter of the left frontal and parietal lobes of brain. The patient was diagnosed as cerebrotendinous xanthomatosis based on the clinical and radiological features.Cerebrotendinous xanthomatosis is a rare autosomal-recessive disorder due to mutations in the CYP27A1 gene which encodes the mitochondrial enzyme sterol 27-hydroxylase. It is clinically characterized by cataracts, diarrhoea, xanthomas, progressive neurological symptoms, premature arteriosclerosis and coronary heart disease. The progress of cerebrotendinous xanthomatosis can prevent with early diagnosis and treatment.