title: Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.
abstract: 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 3 h postmortem. The 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 R237X and IVS6+1G-->A) in the sterol 27-hydroxylase (CYP27) gene. Both mutations have already been described in patients with CTX and can be considered the most likely cause of the disease. The pathomechanism of the excessive hyperthermia could not be completely elucidated.
authors.affiliation: Institut für Rechtsmedizin, Universität Hamburg, Germany. sperhake@uke.uni-hamburg.de
authors.forename: J P
authors.initials: JP
authors.lastname: Sperhake
authors.forename: J
authors.initials: J
authors.lastname: Matschke
authors.forename: U
authors.initials: U
authors.lastname: Orth
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: K
authors.initials: K
authors.lastname: Püschel
mesh_terms: D001483:Base Sequence; D053493:Cholestanetriol 26-Monooxygenase; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D004252:DNA Mutational Analysis; D003645:Death, Sudden; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics / Q000401:mortality / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D013250:Steroid Hydroxylases / Q000235:genetics; D019294:Xanthomatosis, Cerebrotendinous / Q000201:enzymology / Q000235:genetics* / Q000401:mortality* / Q000473:pathology
chemical_list: D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase