title: Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up.
abstract: 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.
authors.affiliation: Department of Medicine, C123 Riyadh Military Hospital, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia, and Department of Medical Laboratory Services & Technology, Huddinge University Hospital, Sweden. daperkh@hotmail.com
authors.forename: David A
authors.initials: DA
authors.lastname: Price Evans
authors.forename: Kawther A
authors.initials: KA
authors.lastname: Salah
authors.forename: Mashael A
authors.initials: MA
authors.lastname: Mobrad
authors.forename: William D
authors.initials: WD
authors.lastname: Mitchell
authors.forename: Maria
authors.initials: M
authors.lastname: Olin
authors.forename: Gosta
authors.initials: G
authors.lastname: Eggertsen
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D008297:Male; D012529:Saudi Arabia; D019294:Xanthomatosis, Cerebrotendinous / Q000235:genetics*
chemical_list: C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase