Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
ISSN: ISSN: 2157-7412
Department of Cardiology, Hospital das Clinicas HCFMUSP, University of Sao Paulo, Sao Paulo, Brazil
Case Report
Rare Genetic Cerebrotendinous Xanthomatosis: A Case without Cholestanol- Elevation with Prominent Cholesterol-Rich Achilles Tendon Xanthoma
Author(s): Renato Jorge Alves, Valéria Sutti Nunes*, Edna Regina Nakandakare, Ney Carter Do Carmo-Borges and Eder Carlos Rocha Quintão
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. Accordingly, cataracts, gallstones, diarrhea and
premature atherosclerosis have been reported. Nonetheless, clinical development is extremely heterogeneous in CTX.
We report here one case of CTX genetic alteration occurring in the absence of cholestanol elevation in plasma and
tendon, but with prominent xanthoma limited to severe inflammatory injury of the cholesterol-rich Achilles tendons.
We propose that CTX may not be characterized by increased cholestanol production due to alteration in the sterol
27-hydroxylase gene, but is a more complex pathology that may result f.. View More»
DOI:
10.35248/2157-7412.23.14.381