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Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey

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dc.contributor.authorZubarioglu, Tanyel
dc.contributor.authorKiykim, Ertugrul
dc.contributor.authorYEŞİL, GÖZDE
dc.contributor.authorDemircioglu, Duhan
dc.contributor.authorCansever, Mehmet Serif
dc.contributor.authorYalcinkaya, Cengiz
dc.contributor.authorAktuglu-Zeybek, Cigdem
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-11-17T23:43:44Z
dc.date.available2019-11-17T23:43:44Z
dc.date.issued2019-09-01
dc.description.abstractCerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. In spite of subtle clinical signs beginning from childhood, CTX is generally diagnosed lately. The aim of this study is to evaluate clinical, neuroradiological findings and therapy responses of pediatric CTX patients and raise awareness to early features of disease. Patients who were molecularly diagnosed as CTX before 18 years of age were included in study. Clinical, epidemiological, radiological and genotypic features of patients and chenodeoxycholic acid (CDCA) therapy responses were reviewed retrospectively. Six patients were enrolled in the study. The mean age of diagnosis was 11.1 +/- 4.5 years. Apart from previous studies, predominance of cerebellar signs over pyramidal signs, peripheral neuropathy with demyelinating neuropathy in majority of patients and pathological brain imaging findings despite young ages of patients were observed. Intention tremor was the consisting finding of all patients. Optic disc drusen was initially reported in one patient. Skeletal system involvement as coarse extremities, deformities and early osteoporosis was recognized in four patients. CDCA therapy improved or at least stabilized neurological functions in all patients. This study is the first CTX series from Turkey and performed among only in early diagnosed patients with a therapy follow-up contrary to limited data in the literature. We suggest that, awareness of intention tremor and ataxic gait in addition to mental retardation, peripheral neuropathy and early osteoporosis can be suspicious for CTX and lead diagnosis. Early treatment can provide stability and may also ameliorate existing neurological findings.
dc.identifier.citationZubarioglu T., Kiykim E., YEŞİL G., Demircioglu D., Cansever M. S. , Yalcinkaya C., Aktuglu-Zeybek C., -Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey-, ACTA NEUROLOGICA BELGICA, cilt.119, ss.343-350, 2019
dc.identifier.doi10.1007/s13760-017-0851-2
dc.identifier.pubmed29058268
dc.identifier.scopus85031907181
dc.identifier.urihttps://hdl.handle.net/20.500.12645/10430
dc.identifier.wosWOS:000482913200006
dc.language.isoen
dc.titleEarly diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey
dc.typeArticle
dspace.entity.typePublication
local.avesis.idae56a242-26f2-4cf3-b483-6e317cf27c4d
local.publication.isinternational1
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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