Central core disease: Atypical case with respiratory insufficiency in an intensive care unit

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dc.contributor.authorPolar, Muzaffer
dc.contributor.authorTosun, Ayse
dc.contributor.authorAy, Yilmaz
dc.contributor.authorOzer, Erdener
dc.contributor.authorSerdaroglu, Gul
dc.contributor.authorAydogdu, Sema
dc.contributor.authorGokben, Sarenur
dc.contributor.authorTekgul, Hasan
dc.date.accessioned2019-10-27T19:19:52Z
dc.date.available2019-10-27T19:19:52Z
dc.date.issued2006
dc.departmentEge Üniversitesien_US
dc.description.abstractCentral core disease is a rare congential myopathy characterized by formation of typical cores in myofibrils. We report an atypical case of central core disease with respiratory insufficiency in the late stage of congenital myopathy. A 13-year-old girl was admitted to the intensive care unit with the diagnosis of respiratory distress syndrome. Ventilatory support was initiated. After 2 weeks of follow-up, the Division of Pediatric Neurology was consulted owing to the failure to wean her from the ventilator. Clinical and electromyographic features were in favor of primary muscle disease. Muscle biopsy revealed typical cores in type 1 muscle fibers, which were diagnostic for central core disease. This case was presented to emphasize that patients with respiratory distress who cannot be weaned from the ventilator should be evaluated for central core disease with an atypical presentation.en_US
dc.identifier.doi10.2310/7010.2006.00031en_US
dc.identifier.endpage174en_US
dc.identifier.issn0883-0738
dc.identifier.issn1708-8283
dc.identifier.issue2en_US
dc.identifier.pmid16566888en_US
dc.identifier.startpage173en_US
dc.identifier.urihttps://doi.org/10.2310/7010.2006.00031
dc.identifier.urihttps://hdl.handle.net/11454/38803
dc.identifier.volume21en_US
dc.identifier.wosWOS:000237831900019en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSage Publications Incen_US
dc.relation.ispartofJournal of Child Neurologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleCentral core disease: Atypical case with respiratory insufficiency in an intensive care uniten_US
dc.typeArticleen_US

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