జర్నల్ ఆఫ్ జెనెటిక్ సిండ్రోమ్స్ & జీన్ థెరపీ
అందరికి ప్రవేశం

నైరూప్య

Rare Genetic Cerebrotendinous Xanthomatosis: A Case without Cholestanol- Elevation with Prominent Cholesterol-Rich Achilles Tendon Xanthoma

Renato Jorge Alves, Valéria Sutti Nunes, Edna Regina Nakandakare, Ney Carter Do Carmo-Borges, 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 from additional genetic alterations that require further analyses.