Neuro-ichthyotic syndromes: a case series

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dc.contributor.authorGüngör, Serdal
dc.date.accessioned2019-07-19T07:04:35Z
dc.date.available2019-07-19T07:04:35Z
dc.date.issued2018
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBackground: The neuro-ichthyotic diseases are clinically and genetically heterogeneous. The purpose of this study was to evaluate the clinical and neuroradiological findings and to analyze mutation in 15 patients with neuro-ichthyotic diseases. Materials and Methods: We retrospectively analyzed the records of 15 patients with the diagnosis of neuro-ichthyotic diseases. Results: Eight female and seven male patients (age range 11 months-52 years) were investigated. There were eight patients with Sjogren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome. Parental consanguinity was found in all the patients except one. All patients had ichthyosis. Diagnosis was performed with genetic study. Conclusions: Because biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases. Detailed skin and physical examinations are mandatory in these patients. Genetic tests are necessary for accurate diagnosis.en_US
dc.identifier.citationGüngör, S. (2018). Neuro-ichthyotic syndromes: a case series. Cilt:13 Sayı:1, 34-38 ss.en_US
dc.identifier.doi10.4103/jpn.JPN_54_17en_US
dc.identifier.endpage38en_US
dc.identifier.issue1en_US
dc.identifier.startpage34en_US
dc.identifier.urihttps://hdl.handle.net/11616/12777
dc.identifier.volume13en_US
dc.language.isoenen_US
dc.publisherMEDKNOW PUBLICATIONS & MEDIA PVT LTD, B-9, KANARA BUSINESS CENTRE, OFF LINK RD, GHAKTOPAR-E, MUMBAI, 400075, INDIAen_US
dc.relation.ispartofJournal of pedıatrıc neuroscıencesen_US
dc.rightsinfo:eu-repo/semantics/restrictedAccessen_US
dc.subjectMultıple Sulfatase Defıcıencyen_US
dc.subjectSjogren-Larsson-Syndromeen_US
dc.subjectChanarın-Dorfman-Syndromeen_US
dc.subjectCopper-Metabolısmen_US
dc.subjectMednık Syndromeen_US
dc.subjectPathogenesısen_US
dc.subjectDefecten_US
dc.titleNeuro-ichthyotic syndromes: a case seriesen_US
dc.typeArticleen_US

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