Basit öğe kaydını göster

dc.contributor.authorAkbay, Sinem
dc.contributor.authorOzer, Esra
dc.contributor.authorIlhan, Ozkan
dc.contributor.authorKanar, Berat
dc.contributor.authorMemur, Seyma
dc.contributor.authorDiniz, Gulden
dc.contributor.authorDundar, Nihal Olgac
dc.date.accessioned2020-11-20T14:43:04Z
dc.date.available2020-11-20T14:43:04Z
dc.date.issued2019
dc.identifier.issn2146-2372
dc.identifier.issn1309-9566
dc.identifier.urihttps://doi.org/10.5222/buchd.2019.38801
dc.identifier.urihttps://hdl.handle.net/20.500.12809/1147
dc.descriptionWOS: 000501578900016en_US
dc.description.abstractThe diagnosis of the hypotonia during neonatal period is difficult. In the neonatal period, acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism should be considered in the differential diagnosis of the patients. Congenital disorders that affect nervous system can be the reason of hypotonia. Nemaline myopathy (NM) is a rare congenital myopathy, characterized with slowly progressive or nonprogressive muscle weakness and the inclusions known as nemaline rods characterized by rod-shaped structures (nemaline bodies) in muscle biopsy specimens. The disease can be presented with hypotonia, feeding problems, repeated respiratory infections, and arthrogryposis. Also, agenesis of corpus callosum (ACC) can result in an interhemispheric disconnection , neurologic problems such as mental retardation, and seizures. Unfortunately, there is no curative treatment for both of them. Herein, we report an infant who was admitted with generalized muscle weakness at the neonatal period and diagnosed as ACC with NM.en_US
dc.item-language.isoengen_US
dc.publisherDr Behcet Uz Cocuk Hastaliklari ve Cerrahisien_US
dc.item-rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAgenesis Corpus Callosumen_US
dc.subjectHypotoniaen_US
dc.subjectNemaline Myopathyen_US
dc.subjectNewbornen_US
dc.titleCoincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Reporten_US
dc.item-typearticleen_US
dc.contributor.departmenten_US
dc.contributor.departmentTemp[Akbay, Sinem] Tokat Devlet Hastanesi, Neonatol, Tokat, Turkey -- [Ozer, Esra] Celal Bayar Univ, Tip Fak, Neonatol, Manisa, Turkey -- [Ilhan, Ozkan] Mugla Sitki Kocman Univ, Tip Fak, Neonatol, Mugla, Turkey -- [Kanar, Berat] Mardin Devlet Hastanesi, Neonatol, Mardin, Turkey -- [Memur, Seyma] Kanuni Sultan Suleyman Egiti & Arastirma Hastanes, Neonatol, Istanbul, Turkey -- [Diniz, Gulden] Izmir Tepecik Egitim & Arastirma Hastanesi, Potol, Izmir, Turkeyen_US
dc.identifier.doi10.5222/buchd.2019.38801
dc.identifier.volume9en_US
dc.identifier.issue3en_US
dc.identifier.startpage259en_US
dc.identifier.endpage262en_US
dc.relation.journalIzmir Dr Behcet Uz Cocuk Hastanesi Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster