Publication:
Case report and current literature review of adult cerebrotendinous xanthomatosis: evaluation of treatment response based on gait analysis adult cerebrotendinous xanthomatosis

dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorBuluş, Eser
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorÜçem, Selen
dc.contributor.kuauthorÖzer, Fahriye Feriha
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2025-03-06T20:58:28Z
dc.date.issued2024
dc.description.abstractCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme. Deficiency of this enzyme leads to the accumulation of cholestanol and cholesterol in various systems (brain, lens, tendons), resulting in chronic diarrhea, juvenile cataracts, tendon xanthoma, and progressive neurodegeneration. Neurological manifestations include ataxia, dystonia, parkinsonism, seizures, dementia, and peripheral neuropathy. We report a 55-year-old woman who presented with chronic and progressive difficulty walking with a history of juvenile cataracts and a family history of parkinsonism. She was found to have cognitive decline, pyramidal-cerebellar signs, and xanthomas at her distal extremities. The diagnosis of CTX was confirmed by a homozygous pathological variant of the CYP27A1 gene, and treatment with chenodeoxycholic acid was initiated. Because CTX is treatable and preventable, accurate diagnosis and initiation of treatment at the earliest stages are crucial.
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.publisherscopeNational
dc.description.sponsoredbyTubitakEuN/A
dc.identifier.doi10.4274/haseki.Galenos.2024.9903
dc.identifier.eissn2147-2688
dc.identifier.issn1302-0072
dc.identifier.issue4
dc.identifier.quartileQ3
dc.identifier.scopus2-s2.0-85208731658
dc.identifier.urihttps://doi.org/10.4274/haseki.Galenos.2024.9903
dc.identifier.urihttps://hdl.handle.net/20.500.14288/27459
dc.identifier.volume62
dc.identifier.wos1351576100001
dc.keywordsRare disease
dc.keywordsXanthoma
dc.keywordsTreatment
dc.keywordsChenodeoxycholic acid
dc.keywordsGait analysis
dc.language.isoeng
dc.publisherGalenos Publishing House
dc.relation.ispartofHASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI
dc.subjectMedicine
dc.titleCase report and current literature review of adult cerebrotendinous xanthomatosis: evaluation of treatment response based on gait analysis adult cerebrotendinous xanthomatosis
dc.typeReview
dspace.entity.typePublication
local.contributor.kuauthorBuluş, Eser
local.contributor.kuauthorAvcı, Şahin
local.contributor.kuauthorÜçem, Selen
local.contributor.kuauthorÖzer, Fahriye Feriha
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1KUH (KOÇ UNIVERSITY HOSPITAL)
local.publication.orgunit2KUH (Koç University Hospital)
local.publication.orgunit2School of Medicine
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