Central core disease: atypical case with respiratory insufficiency in an intensive care unit.
Central core disease is a rare congenital 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.
Polat
Muzaffer
M
Department of Pediatrics, Ege University Hospital, Izmir, Turkey.
Tosun
Ayse
A
Ay
Yilmaz
Y
Ozer
Erdener
E
Serdaroglu
Gul
G
Aydogdu
Sema
S
Gokben
Sarenur
S
Tekgul
Hasan
H
D000293:Adolescent; D001706:Biopsy; D002888:Chromosomes, Human, Pair 19; D003422:Critical Care; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D020512:Myopathy, Central Core / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D012121:Respiration, Artificial; D012131:Respiratory Insufficiency / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D015300:Ventilator Weaning
D019837:Ryanodine Receptor Calcium Release Channel