caa a22 4500 475788087 CHVBK 20180406123704.0 cr unu---uuuuu 170329e20000201xx s 000 0 eng 10.1007/PL00007709 doi (NATIONALLICENCE)springer-10.1007/PL00007709 Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis [Elektronische Daten] [J. P. Sperhake, J. Matschke, U. Orth, A. Gal, K. Püschel] A case of sudden death of a 52-year-old mentally retarded Caucasian male is described where the rectal temperature was 43.4 °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. Springer-Verlag Berlin Heidelberg, 2000 Key words Cerebrotendinous xanthomatosis nationallicence CTX nationallicence Hyperthermia nationallicence Genotype nationallicence CYP27 gene nationallicence Sperhake J. P. Institut für Rechtsmedizin, Universität Hamburg, Butenfeld 34,D-22529 Hamburg, Germany e-mail: sperhake@uke.uni-hamburg.de; Fax +49-40-428033934; Tel. +49-40-428035625, DE aut Matschke J. Institut für Rechtsmedizin, Universität Hamburg, Butenfeld 34,D-22529 Hamburg, Germany e-mail: sperhake@uke.uni-hamburg.de; Fax +49-40-428033934; Tel. +49-40-428035625, DE aut Orth U. Institut für Humangenetik, Universität Hamburg, Butenfeld 42,D-22529 Hamburg, Germany, DE aut Gal A. Institut für Humangenetik, Universität Hamburg, Butenfeld 42,D-22529 Hamburg, Germany, DE aut Püschel K. Institut für Rechtsmedizin, Universität Hamburg, Butenfeld 34,D-22529 Hamburg, Germany e-mail: sperhake@uke.uni-hamburg.de; Fax +49-40-428033934; Tel. +49-40-428035625, DE aut https://doi.org/10.1007/PL00007709 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00007709 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sperhake J. P. Institut für Rechtsmedizin, Universität Hamburg, Butenfeld 34,D-22529 Hamburg, Germany e-mail: sperhake@uke.uni-hamburg.de; Fax +49-40-428033934; Tel. +49-40-428035625, DE aut NATIONALLICENCE 700 1- Matschke J. Institut für Rechtsmedizin, Universität Hamburg, Butenfeld 34,D-22529 Hamburg, Germany e-mail: sperhake@uke.uni-hamburg.de; Fax +49-40-428033934; Tel. +49-40-428035625, DE aut NATIONALLICENCE 700 1- Orth U. Institut für Humangenetik, Universität Hamburg, Butenfeld 42,D-22529 Hamburg, Germany, DE aut NATIONALLICENCE 700 1- Gal A. Institut für Humangenetik, Universität Hamburg, Butenfeld 42,D-22529 Hamburg, Germany, DE aut NATIONALLICENCE 700 1- Püschel K. Institut für Rechtsmedizin, Universität Hamburg, Butenfeld 34,D-22529 Hamburg, Germany e-mail: sperhake@uke.uni-hamburg.de; Fax +49-40-428033934; Tel. +49-40-428035625, DE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer