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

doi:https://doi.org/10.1590/S0004-282X2004000600028

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

Research output: Contribution to journal › Article › Academic › peer-review

9 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1085-1089
Number of pages	5
Journal	Arquivos de neuro-psiquiatria
Volume	62
Issue number	4
DOIs	https://doi.org/10.1590/S0004-282X2004000600028
Publication status	Published - Dec 2004

Keywords

CYP27A1
Cerebrotendinous xanthomatosis
Sterol 27-hydroxylase

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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.",

keywords = "CYP27A1, Cerebrotendinous xanthomatosis, Sterol 27-hydroxylase",

author = "Lange, {Marcos Christiano} and {Flumignan Z{\'e}tola}, Viviane and Teive, {Helio A.G.} and Scola, {Rosana H.} and Trentin, {Ana Paula} and Zavala, {Jorge A.} and Pereira, {Eduardo R.} and Salmo Raskin and Werneck, {Lineu C.} and Sistermans, {Erik A.}",

year = "2004",

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doi = "https://doi.org/10.1590/S0004-282X2004000600028",

language = "English",

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AU - Lange, Marcos Christiano

AU - Flumignan Zétola, Viviane

AU - Teive, Helio A.G.

AU - Scola, Rosana H.

AU - Trentin, Ana Paula

AU - Zavala, Jorge A.

AU - Pereira, Eduardo R.

AU - Raskin, Salmo

AU - Werneck, Lineu C.

AU - Sistermans, Erik A.

PY - 2004/12

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N2 - 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.

AB - 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.

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KW - Cerebrotendinous xanthomatosis

KW - Sterol 27-hydroxylase

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ER -

Cerebrotendinous xanthomatosis: Report of two Brazilian brothers

Abstract

Keywords

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