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A 37 year old patient was admitted for a generalised seizure. He was treated with valproic acid for partial epilepsy. Neurological examination revealed a cerebellar and pyramidal syndrome, moderate mental retardation, and enlargement of Achilles tendons xanthomas (figs 1 and 2).
MRI showed capsular, putaminal, and symmetrical cerebellar hyper intense signal on T2 images and Tc labelled hexamethylpropyleneamine oxime (HMPAO) SPECT illustrated temporal hypoperfusion. EEG revealed diffuse slow waves with bursts of high voltage shapes waves. Electromyography was suggestive of axonal polyneuropathy. CFS was normal, including isoelectric focusing. Complete blood counts, serum cholesterol, urea, glucose, electrolytes, proteins, liver function tests, vitamin B12, and angiotensin converting enzyme were all normal. Serology for HIV, herpes simplex, Ebstein-Barr virus, cytomegalovirus, HTLV I-II and TPHA test and VDRL test were all negative. Cholestanol in serum was increased to 44.33 μmol/l (20 times normal value) evoking cerebrotendinous xanthomatosis (CTX). Pathogenic mutations 1183C>T and 1209C>G (N403K, exon 7, heterozygous) were detected in the CYP27A1 analysis—mutations that has not been described before. Chenodeoxycholique acid was introduced.
The CTX is a rare recessive autosomal disease caused by mutations of the sterol 27 hydroxylase gene.1 CTX patients have elevated plasma levels of cholestanol byproduct of abnormal bile acid synthesis. Clinical hallmarks are tendon xanthomas, juvenile cataract, and nervous system abnormalities. The biochemical diagnosis is made by determination of the serum cholestanol level and by the determination of bile alcohol excretion in urine.2
About 300 cerebrotendinous patients throughout the world have been reported, but it is our contention that there are many undiagnosed patients. A diagnosis is crucial because chenodeoxycholic acid treatment may stop the deterioration and improve the neurological functions.3 We report a patient presenting a mental retardation, cerebella ataxia, and epilepsy. Enlargement of Achilles tendons bilaterally observation leaded to CTX diagnosis.
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