RT Journal Article
SR Electronic
T1 Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 1113
OP 1118
VO 28
IS 7
A1 Price Evans, David A.
A1 Salah, Kawther A.
A1 Mobrad, Mashael A.
A1 Mitchell, William D.
A1 Olin, Maria
A1 Eggertsen, Gosta
YR 2007
UL http://smj.org.sa/content/28/7/1113.abstract
AB A Saudi Arabian family is described in which there were 2 siblings with typical features of cerebral xanthomatosis CTX including premature cataracts, xanthomata of the Achilles tendons, neuro-psychiatric disturbances, and atherosclerosis. The 2 patients were homozygous for a point mutation in the mitochondrial 27-hydroxylase gene CYP27A1, OMIM 606530 located in the splice site of intron 6, where G was exchanged for A IVS6+1G>A. Their parents were cousins, 5 siblings were healthy, 2 were heterozygous for the mutation, and one showed the wild-type genotype. The father was heterozygous for the mutation, while the other family members were not tested. The progress of the 2 CTX patients over 14 years is described; firstly when they were receiving treatment with chenodeoxycholic acid; when this medication was not available, and later when it was restored. A hereditary hyperlipidemia was also present in this family. It is suggested that when this occurs with CTX, a more serious illness results that merits more aggressive dual therapy.