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Article

Cerebrotendinous xanthomatosis: report of two Brazilian brothers.

Arquivos de neuro-psiquiatria - 1 Dec 2004

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

Abstract excerpt

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...

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PMID: 15608974
DOI: 10.1590/s0004-282x2004000600028

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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