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Central Core Disease: Atypical Case With Respiratory Insufficiency in an Intensive Care Unit

Department of Pediatrics Division of Pediatric Neurology Ege University Hospital

Ayse Tosun, MD

Department of Pediatrics Division of Pediatric Neurology Ege University Hospital

Yilmaz Ay, MD

Department of Pediatrics Division of Pediatric Neurology Ege University Hospital

Erdener Ozer, MD

Department of Pathology Dokuz Eylul University Hospital

Gul Serdaroglu, MD

Department of Pediatrics Division of Pediatric Neurology Ege University Hospital

Sema Aydogdu, MD

Department of Pediatrics Division of Gastroenterology and Nutrition Ege University Hospital

Sarenur Gokben, MD

Department of Pediatrics Division of Pediatric Neurology Ege University Hospital Izmir, Turkey

Hasan Tekgul, MD

Department of Pediatrics Division of Pediatric Neurology Ege University Hospital Izmir, Turkey, htekgul{at}med.ege.edu.tr.

Central 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. (J Child Neurol 2006;21:173—174; DOI 10.2310/7010.2006.00031).

Journal of Child Neurology, Vol. 21, No. 2, 173-174 (2006)
DOI: 10.1177/08830738060210021301


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