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Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them.

Authors :
Yılmaz, Banu Kadıoğlu
Çelik, Halil
Source :
Journal of Clinical Lipidology; May2024, Vol. 18 Issue 3, pe452-e464, 13p
Publication Year :
2024

Abstract

• CTX is a childhood-onset lipid storage disease usually diagnosed in adulthood. • Hand tremor was detected in 83.3% of patients as the first neurological sign. • Malar rash,a possibly new clinical finding in CTX,was detected in 75% of patients. • Malar rash and hand tremor showed complete recovery with CDCA treatment. Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene. The study aims to evaluate patients diagnosed with CTX and reveal new information, especially about the signs of CTX and patients' response to the treatment. The study was conducted retrospectively in 12 definitively diagnosed CTX patients. The patients' clinical, laboratory, imaging, genetic findings, and chenodeoxycholic acid (CDCA) treatment results were analyzed. The median age at diagnosis for the patients was 16.5 years (minimum-maximum: 7–32). Juvenile cataracts, detected in more than 90% (11/12) of the patients, were the most common clinical finding. Malar rash, not previously reported in the literature for CTX, was present in 75% (9/12) of the patients. Hand tremors, the first neurological symptom, occurred in adolescence and were the initial symptom of the disease in five patients. Hand tremors were present in 83.3% (10/12) of the patients. Hand tremors (in 5 patients) and malar rash (in 2 patients) were clinical findings with full recovery due to the CDCA treatment. The study defines the malar rash finding, which has not been reported in the literature before, as a possible new clinical finding in CTX disease, attributed to its partial or full recovery with CDCA treatment. Additionally, as a novelty in the literature, our study highlights the full recovery of neurological findings, such as hand tremors, in CTX. Patients presenting with hand tremors and malar rash, especially in adolescence, should undergo CTX investigation for early diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
19332874
Volume :
18
Issue :
3
Database :
Supplemental Index
Journal :
Journal of Clinical Lipidology
Publication Type :
Academic Journal
Accession number :
178045362
Full Text :
https://doi.org/10.1016/j.jacl.2024.02.009