Neuro-ichthyotic Syndromes: A Case Series

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dc.authoridHerguner, M Ozlem/0000-0002-2810-5539
dc.authoridYILMAZ, Mustafa/0000-0001-9422-1725
dc.authoridGUL MERT, GULEN/0000-0002-1160-5617
dc.authorwosidHerguner, M Ozlem/E-5894-2018
dc.authorwosidYılmaz, Mustafa/E-7787-2018
dc.authorwosidYILMAZ, Mustafa/C-5556-2016
dc.authorwosidGUL MERT, GULEN/J-4594-2018
dc.contributor.authorIncecik, Faruk
dc.contributor.authorHerguner, Ozlem M.
dc.contributor.authorOzbek, Mehmet N.
dc.contributor.authorGungor, Serdal
dc.contributor.authorYilmaz, Mustafa
dc.contributor.authorRizzo, Wiliam B.
dc.contributor.authorMert, Gulen G.
dc.date.accessioned2024-08-04T21:00:02Z
dc.date.available2024-08-04T21:00:02Z
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.doi10.4103/jpn.JPN_54_17
dc.identifier.endpage38en_US
dc.identifier.issn1817-1745
dc.identifier.issn1998-3948
dc.identifier.issue1en_US
dc.identifier.pmid29899769en_US
dc.identifier.startpage34en_US
dc.identifier.urihttps://doi.org/10.4103/jpn.JPN_54_17
dc.identifier.urihttps://hdl.handle.net/11616/103744
dc.identifier.volume13en_US
dc.identifier.wosWOS:000433244300006en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMedknow Publications & Media Pvt Ltden_US
dc.relation.ispartofJournal of Pediatric Neurosciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGenetic studyen_US
dc.subjectneuro-ichthyotic diseasesen_US
dc.subjectskin and physical examinationen_US
dc.titleNeuro-ichthyotic Syndromes: A Case Seriesen_US
dc.typeArticleen_US

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