The clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population

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dc.authorid0000-0001-9978-9694
dc.authorid0000-0001-6405-1112
dc.contributor.authorBilgin, Hüseyin
dc.contributor.authorYolbaş, İlyas
dc.contributor.authorTekeş, Selahattin
dc.date.accessioned2025-02-22T14:10:54Z
dc.date.available2025-02-22T14:10:54Z
dc.date.issued2024
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractAim: The aim of this study was to examine the clinical, laboratory and demographic characteristics of patients diagnosed with cerebrotendinous xanthomatosis. Materials and methods: This study included 11 patients followed up in the Paediatric Metabolism Polyclinic for a diagnosis of CTX. The diagnosis of CTX was made from high blood cholestanol level and CYP27A1 gene analysis. All the cases diagnosed with CTX for whom clinical and laboratory findings were evaluated were included in the study. Results: Evaluation was made of 11 patients from 5 different families. The diagnosis was established 25 years after the symptoms first appeared. The diagnosis was made because of bilateral cataracts in 2 patients, tendon xanthomas in 2, and as a result of family screening in 7. Tendon xanthomas were present in 36.3 % of the patients, and there was a history of cataract in 54.5 %. In the current study, mental retardation was determined in 72 % of the patients, psychiatric findings in 36 %, epilepsy in 36 %, pyramidal-extrapyramidal findings in 45 %, and postural tremor in 54 %. In addition, neuropsychiatric symptoms were seen at different rates in patients with different gene alleles. No tendon xanthomas were determined in the cases with c.1263 + 4A>T and c.808C>T mutations. Cataract was determined in all the cases with homozygote c.1263 + 4A>T mutation. Conclusion: In this study, it was determined that the cases were diagnosed late despite the onset of symptoms providing clues for diagnosis at an early age. It was determined that the delay in diagnosis was 25 years. © 2024en_US
dc.identifier.citationBilgin, H., Yolbaş, İ. ve Tekeş, S. (2024). The clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population. Journal of Clinical Lipidology, 1-7.
dc.identifier.doi10.1016/j.jacl.2024.08.010
dc.identifier.issn1933-2874
dc.identifier.scopus2-s2.0-85208759552en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1016/j.jacl.2024.08.010
dc.identifier.urihttps://hdl.handle.net/11468/29866
dc.indekslendigikaynakScopus
dc.institutionauthorYolbaş, İlyas
dc.institutionauthorTekeş, Selahattin
dc.institutionauthorid0000-0001-9978-9694
dc.institutionauthorid0000-0001-6405-1112
dc.language.isoenen_US
dc.publisherElsevier Ltden_US
dc.relation.ispartofJournal of Clinical Lipidologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmzKA_Scopus_20250222
dc.subjectCataracten_US
dc.subjectCerebrotendinous xanthomatosisen_US
dc.subjectFamily screeningen_US
dc.subjectGenotypeen_US
dc.subjectManagementen_US
dc.titleThe clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish populationen_US
dc.typeArticleen_US

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