Cerebrotendinous xanthomatosis: a literature review and case study
Anthony Matta, Fabienne Ory Magne, Thierry Levade, Fabrice Bonneville, Jean Ferrières · 2024
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Description
A rare inherited disorder scrambles fat handling so badly that a waste product builds up in tendons, eyes, and brain, yet it can be treated if caught in time. Anthony Matta and co-authors review the condition in a 2024 paper and add a case of their own. Stubborn diarrhea, early cataracts, and nerve trouble on top of cholesterol lumps form the classic warning pattern.
Blood tests for the waste product and the missing bile acid, plus a gene check, settle the diagnosis, and a replacement bile acid is the standard care. Their patient was first misread as a common cholesterol disorder despite major early heart events. The review also backs one gene variant as likely disease-causing.
Catalog record
| CREATOR | Anthony Matta, Fabienne Ory Magne, Thierry Levade, Fabrice Bonneville, Jean Ferrières |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 19 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |