Cerebrotendinous xanthomatosis: report of two Brazilian brothers.
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.
Lange
Marcos Christiano
MC
Serviço de Neurologia, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.
Zétola
Viviane Flumignan
VF
Teive
Helio A G
HA
Scola
Rosana H
RH
Trentin
Ana Paula
AP
Zavala
Jorge A
JA
Pereira
Eduardo R
ER
Raskin
Salmo
S
Werneck
Lineu C
LC
Sistermans
Erik A
EA
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*
D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase