An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

Basit Öğe Kaydı
dc.contributor.authorEr, Esra
dc.contributor.authorCanda, Ebru
dc.contributor.authorYazici, Havva
dc.contributor.authorEraslan, Cenk
dc.contributor.authorSozmen, Eser
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorCoker, Mahmut
dc.date.accessioned2019-10-27T10:42:03Z
dc.date.available2019-10-27T10:42:03Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractAim: The purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics of children with GM2 gangliosidosis. Materials and Methods: Patients with GM2 gangliosidosis who were referred to Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nutrition and Metabolism between January 2004 and December 2016, were included in this study. Diagnosis was confirmed by determimng the level of serum beta-hexosaminidase activity and genetic mutation analysis. The demographic and clinical features are reported for 8 patients with Tay-Sachs disease (TSD) and 6 with Sandhoff disease. Results: The mean age at diagnosis was 18.2 months (range 4-48 months) and 14.5 months (range 8-36 months) for patients with TSD or Sandhoff disease respectively. The initial and main complaint in 100% of the patients were neurological disorders, such as developmental delay, developmental regression or both; seizures and macrocephaly. None of the patients exhibited evidence of organomegaly. Cranial magnetic resonance imaging results were normal in 38% of the cases, 55% of the cases had bilateral thalami involvement presenting as T2 hyperintensity especially at the posterior thalami and 9% of cases had myelination delay. Conclusion: GM2 gangliosidosis disease should be considered for children with developmental regression and/or delay. To prevent a delay in diagnosis, beta-hexosaminidase activity in serum and genetic mutation analysis should be undertaken in suspected cases. Curative gene therapy may be available in the future.en_US
dc.identifier.doi10.4274/jpr.87609
dc.identifier.endpage16en_US
dc.identifier.issn2147-9445
dc.identifier.issn2147-9445en_US
dc.identifier.issue1en_US
dc.identifier.startpage12en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.87609
dc.identifier.urihttps://hdl.handle.net/11454/30600
dc.identifier.volume5en_US
dc.identifier.wosWOS:000436882600004en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGM2 gangliosidosisen_US
dc.subjecthexoaminidaseen_US
dc.subjectTay-Sachs diseaseen_US
dc.subjectSandhoff diseaseen_US
dc.titleAn Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosisen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu