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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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Abstract

Cerebrotendinous 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.

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Tanyel Zubarioglu serves as the guarantor for the article. She accepts full responsibility for the work, had access to the data and controlled the decision to publish. She has been involved in conception, design, analysis and interpretation of the data and also drafting the article; Ertugrul Kiykim has been involved in conception, design, analysis and interpretation of the data; Gozde Yesil has been involved in analysis and interpretation of the data; Duhan Demircioglu has been involved in analysis and interpretation of the data; Mehmet Serif Cansever has been involved in analysis and interpretation of the data; Cengiz Yalcinkaya has been involved in conception, design, interpretation of the data and revising the article critically for important intellectual content; Cigdem Aktuglu-Zeybek has been involved in conception, design, interpretation of the data and revising the article critically for important intellectual content.

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Correspondence to Tanyel Zubarioglu.

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Tanyel Zubarioglu, Ertugrul Kiykim, Gozde Yesil, Duhan Demircioglu, Mehmet Serif Cansever, Cengiz Yalcinkaya and Cigdem Aktuglu-Zeybek declare that they have no conflict of interest. The authors confirms independence from the sponsors; the content of the article has not been influenced by the sponsors.

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All procedures followed were in accordance with the ethical standards of the local Ethical Committee of Cerrahpasa Medical faculty and with the Helsinki Declaration of 1975, as revised in 2000.

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Informed consent was obtained from parents of all individual participants included in the study.

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Zubarioglu, T., Kiykim, E., Yesil, G. et al. Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey. Acta Neurol Belg 119, 343–350 (2019). https://doi.org/10.1007/s13760-017-0851-2

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