title: Cerebrotendinous xanthomatosis: report of two Brazilian brothers.
abstract: Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lipid storage secondary to a sterol 27-hydroxylase deficiency in the formation of cholic and chenodeoxycholic acids. We describe two Brazilian brothers with cognitive impairement and chronic diarrhea. One of them also presents bilateral cataracts. Neurological findings were progressive walking deficit, limb ataxia and pyramidal signs. Both patients had bilateral Achilles tendon xanthomata. Magnetic resonance image showed signal alterations in cerebellar hemispheres. We describe these cases with molecular genetic analysis confirming diagnosis and comparing with previous literature. The CYP27A1 gene study showed a C1187T mutation on exon 6.
authors.affiliation: Serviço de Neurologia, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.
authors.forename: Marcos Christiano
authors.initials: MC
authors.lastname: Lange
authors.forename: Viviane Flumignan
authors.initials: VF
authors.lastname: Zétola
authors.forename: Helio A G
authors.initials: HA
authors.lastname: Teive
authors.forename: Rosana H
authors.initials: RH
authors.lastname: Scola
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Trentin
authors.forename: Jorge A
authors.initials: JA
authors.lastname: Zavala
authors.forename: Eduardo R
authors.initials: ER
authors.lastname: Pereira
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Lineu C
authors.initials: LC
authors.lastname: Werneck
authors.forename: Erik A
authors.initials: EA
authors.lastname: Sistermans
mesh_terms: D000328:Adult; D053493:Cholestanetriol 26-Monooxygenase; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D035781:Siblings; D013250:Steroid Hydroxylases / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase