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. On...

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Published in:Arquivos de neuro-psiquiatria 2004-12, Vol.62 (4), p.1085-1089
Main Authors: Lange, Marcos Christiano, Zétola, Viviane Flumignan, Teive, Helio A G, Scola, Rosana H, Trentin, Ana Paula, Zavala, Jorge A, Pereira, Eduardo R, Raskin, Salmo, Werneck, Lineu C, Sistermans, Erik A
Format: Article
Language:English
Subjects:
Adult
Cholestanetriol 26-Monooxygenase
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Mutation
NEUROSCIENCES
PSYCHIATRY
Siblings
Steroid Hydroxylases - genetics
Xanthomatosis, Cerebrotendinous - complications
Xanthomatosis, Cerebrotendinous - diagnosis
Xanthomatosis, Cerebrotendinous - genetics
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Summary: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.
ISSN:0004-282X
1678-4227
0004-282X
DOI:10.1590/S0004-282X2004000600028