Publication:
Adult-onset treatable leukodystrophy: cerebrotendinous xanthomatosis

dc.contributor.coauthorŞenel, Gülçin Benbir
dc.contributor.coauthorAbbaszade, Hikmet
dc.contributor.coauthorApaydın, Hülya
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentGraduate School of Sciences and Engineering
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.kuauthorTekgül, Şeyma
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF SCIENCES AND ENGINEERING
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T22:49:23Z
dc.date.issued2022
dc.description.abstractCerebrotendinous xanthomatosis is a leukodystrophy resulting from sterol 27-hydroxylase enzyme deficiency caused by CYP27A1 gene mutations. It is characterized by diarrhea and cataract in children, xan-thomas in adolescents, and progressive neurologic symptoms in adults. This study presented a 39-year-old woman who had progressive difficulty in talking, clumsiness in the hands, and imbalance for 2 years. She was able to walk on her toes but was unable to perform activities of daily living or simple housework. Speech difficulty was present since disease onset. Neurologic examination revealed mild mental retardation, hyperactive deep tendon reflexes, bradykinesia prominent on right, and ataxia. She had bilateral cataract surgery at the age of 15 years. There was no parental consanguinity. Routine biochemical tests, vitamin levels, viral serology, autoimmune antibodies, vasculitis, tumor, and paraneoplastic markers were negative. Brain magnetic resonance imaging showed hyperintensities in cerebellar dentate nuclei in T2-weighted/ Fluid Attenuated Inversion Recovery (FLAIR) images. Patient benefited from early levodopa therapy given for dystonia-Parkinsonism. Genetic analysis demonstrated homozygote 1476+2T>C mutation in CYP27A1 gene. Chenodeoxycholic acid replacement therapy was started gradually twice but discontinued due to side effects. Cerebrotendinous xanthomatosis may present with neurologic symptomatology in adults, but the presence of chronic diarrhea, juvenile cataract, and xanthomas at earlier ages should be kept in mind. Early diagnosis and treatment have beneficial results in preventing the emergence of neurologic symptoms as it is a treatable leukodystrophy. Rarely, intolerance to the drug may occur. Early levodopa therapy in patients having dystonia-Parkinsonism will increase patient’s quality of life.
dc.description.indexedbyScopus
dc.description.indexedbyTR Dizin
dc.description.issue4
dc.description.openaccessYES
dc.description.publisherscopeNational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume60
dc.identifier.doi10.5152/NeuropsychiatricInvest.2022.22008
dc.identifier.issn2792-0070
dc.identifier.scopus2-s2.0-85143136494
dc.identifier.urihttps://doi.org/10.5152/NeuropsychiatricInvest.2022.22008
dc.identifier.urihttps://hdl.handle.net/20.500.14288/6477
dc.keywordsCerebrotendinous xanthomatosis
dc.keywordsSerebrotendinöz ksantomatozis
dc.keywordsLeukodystrophy
dc.keywordsLökodistrofi
dc.keywordsParkinsonism
dc.keywordsParkinsonizm
dc.keywordsSide effects
dc.keywordsYan etki
dc.language.isoeng
dc.publisherAVES Yayıncılık
dc.relation.ispartofNeuropsychiatric Investigation
dc.subjectPediatrics
dc.titleAdult-onset treatable leukodystrophy: cerebrotendinous xanthomatosis
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorBaşak, Ayşe Nazlı
local.contributor.kuauthorTekgül, Şeyma
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1GRADUATE SCHOOL OF SCIENCES AND ENGINEERING
local.publication.orgunit2School of Medicine
local.publication.orgunit2Graduate School of Sciences and Engineering
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