PT  - JOURNAL ARTICLE
AU  - Price Evans, David A.
AU  - Salah, Kawther A.
AU  - Mobrad, Mashael A.
AU  - Mitchell, William D.
AU  - Olin, Maria
AU  - Eggertsen, Gosta
TI  - Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up
DP  - 2007 Jul 01
TA  - Saudi Medical Journal
PG  - 1113--1118
VI  - 28
IP  - 7
4099  - http://smj.org.sa/content/28/7/1113.short
4100  - http://smj.org.sa/content/28/7/1113.full
SO  - Saudi Med J2007 Jul 01; 28
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.