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: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

^*Corresponding author for this work

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

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Cerebrotendinous xanthomatosis
CYP27A1
Sterol 27-hydroxylase

Access to Document

10.1590/S0004-282X2004000600028

Cite this

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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 = "Cerebrotendinous xanthomatosis, CYP27A1, 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",

month = dec,

doi = "10.1590/S0004-282X2004000600028",

language = "English",

volume = "62",

pages = "1085--1089",

journal = "Arquivos de neuro-psiquiatria",

issn = "0004-282X",

publisher = "Arquivos de Neuro-Psiquiatria",

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TY - JOUR

T1 - Cerebrotendinous xanthomatosis

T2 - Report of two Brazilian brothers

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

Y1 - 2004/12

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.

KW - Cerebrotendinous xanthomatosis

KW - CYP27A1

KW - Sterol 27-hydroxylase

UR - https://www.scopus.com/pages/publications/19944369380

U2 - 10.1590/S0004-282X2004000600028

DO - 10.1590/S0004-282X2004000600028

M3 - Article

C2 - 15608974

SN - 0004-282X

VL - 62

SP - 1085

EP - 1089

JO - Arquivos de neuro-psiquiatria

JF - Arquivos de neuro-psiquiatria

IS - 4

ER -

Cerebrotendinous xanthomatosis: Report of two Brazilian brothers

Abstract

UN SDGs

Keywords

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