Cerebrotendinous xanthomatosis: Report of two Brazilian brothers

Marcos Christiano Lange*, Viviane Flumignan Zétola, Helio A.G. Teive, Rosana H. Scola, Ana Paula Trentin, Jorge A. Zavala, Eduardo R. Pereira, Salmo Raskin, Lineu C. Werneck, Erik A. Sistermans

*Corresponding author for this work

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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.

Original languageEnglish
Pages (from-to)1085-1089
Number of pages5
JournalArquivos de neuro-psiquiatria
Issue number4
Publication statusPublished - Dec 2004

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