Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis

A case of sudden death of a 52-year-old mentally retarded Caucasian male is described where the rectal temperature was 43.4 degrees C 3h postmortem. T he autopsy revealed cerebrotendinous xanthomatosis (CTX), a rare hereditary metabolic disorder, as the primary disease. The diagnosis was confirmed by postmortem identification of two mutations (compound heterozygosity for R2 37X and IVS6+1G-->A) in the sterol 27-hydroxylase (CYP27) gene. Both mutati ons have already been described in patients with CTX and can be considered the most likely cause of the disease. The pathomechanism of the excessive h yperthermia could not be completely elucidated.