Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.

TY - JOUR

T1 - Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.

AU - Sperhake, Jan

AU - Matschke, Jakob

AU - Orth, U

AU - Gal, A

AU - Püschel, K

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

M3 - SCORING: Zeitschriftenaufsatz

VL - 113

SP - 110

EP - 113

JO - INT J LEGAL MED

JF - INT J LEGAL MED

SN - 0937-9827

IS - 2

M1 - 2

ER -