Alves, R.J.; Nunes, V.S.; Nakandakare, E.R.; Borges Junior, N.C.D.C.; Quintão, E.C.R. Rare Genetic Cerebrotendinous Xanthomatosis Cases (CTX) without Cholestanol Elevation but with Prominent Cholesterol-Rich Tendon Xanthomas.. Preprints2023, 2023120749. https://doi.org/10.20944/preprints202312.0749.v1
APA Style
Alves, R.J., Nunes, V.S., Nakandakare, E.R., Borges Junior, N.C.D.C., & Quintão, E.C.R. (2023). Rare Genetic Cerebrotendinous Xanthomatosis Cases (CTX) without Cholestanol Elevation but with Prominent Cholesterol-Rich Tendon Xanthomas.. Preprints. https://doi.org/10.20944/preprints202312.0749.v1
Chicago/Turabian Style
Alves, R.J., Ney Carter do Carmo Borges Junior and Eder Carlos Rocha Quintão. 2023 "Rare Genetic Cerebrotendinous Xanthomatosis Cases (CTX) without Cholestanol Elevation but with Prominent Cholesterol-Rich Tendon Xanthomas." Preprints. https://doi.org/10.20944/preprints202312.0749.v1
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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