Rare Genetic Cerebrotendinous Xanthomatosis Cases (CTX) without Cholestanol Elevation but with Prominent Cholesterol-Rich Tendon Xanthomas.

Renato Jorge Alves; Valéria Sutti Nunes; Edna Regina Nakandakare; Ney Carter do Carmo Borges Junior; Eder Carlos Rocha Quintão

doi:10.20944/preprints202312.0749.v1

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preprints.org > biology and life sciences > life sciences > doi: 10.20944/preprints202312.0749.v1

Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

Rare Genetic Cerebrotendinous Xanthomatosis Cases (CTX) without Cholestanol Elevation but with Prominent Cholesterol-Rich Tendon Xanthomas.

Renato Jorge Alves

Valéria Sutti Nunes

Edna Regina Nakandakare

Ney Carter do Carmo Borges Junior

Eder Carlos Rocha Quintão

Version 1 : Received: 11 December 2023 / Approved: 12 December 2023 / Online: 12 December 2023 (05:59:22 CET)

A peer-reviewed article of this Preprint also exists.

Alves, R.J.; Nunes, V.S.; Junior, N.C. do C.B.; Nakandakare, E.R.; Quintão, E.C.R. Rare Genetic Cerebrotendinous Xanthomatosis Cases (CTX) without Cholestanol Elevation but with Prominent Cholesterol-Rich Tendon Xanthomas. Journal of Clinical Lipidology 2024, doi:10.1016/j.jacl.2024.04.128. Alves, R.J.; Nunes, V.S.; Junior, N.C. do C.B.; Nakandakare, E.R.; Quintão, E.C.R. Rare Genetic Cerebrotendinous Xanthomatosis Cases (CTX) without Cholestanol Elevation but with Prominent Cholesterol-Rich Tendon Xanthomas. Journal of Clinical Lipidology 2024, doi:10.1016/j.jacl.2024.04.128.

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disease attributed to the mutation of the gene CYP27A1, resulting in sterol 27-hydroxylase deficiency characterized by deposition of cholestanol and cholesterol in several tissues, like the central nervous system and tendons. Furthermore, cataracts, gallstones, diarrhea and premature atherosclerosis have been reported. Nonetheless, clinical development is extremely heterogeneous in CTX. We report here two cases of CTX genetic alteration in the absence of cholestanol elevation in plasma and tendons but with prominent xanthomas. We propose that CTX may not be characteized by increased plasma cholestanol concentration due to alteration in the sterol 27-hydroxylase gene, but is a more complex pathology that may result from additional genetic alterations that require further analyses.

Keywords

cerebrotendinous xanthomatosis; case report; cholestanol; CYP27A1; Achilles xanthoma.

Subject

Biology and Life Sciences, Life Sciences

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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