Çocuk Sağlığı ve Hastalıkları Dergisi 2007 , Vol 50 , Num 4
Myotubular myopathy, a rare cause of hypotonia in the newborn: report of two cases
Fatma Narter1, Zeynep İnce2, Asuman Çoban2, Piraye Serdaroğlu3, Gülay Can2
1İstanbul Üniversitesi İstanbul Tıp Fakültesi Pediatri Uzmanı
2İstanbul Üniversitesi İstanbul Tıp Fakültesi Pediatri Profesörü
3İstanbul Üniversitesi İstanbul Tıp Fakültesi Nöroloji Profesörü
Narter F, İnce Z, Çoban A, Serdaroğlu P, Can G. (Department of Pediatrics, İstanbul University İstanbul Medical Faculty, İstanbul, Turkey). Myotubular myopathy, a rare cause of hypotonia in the newborn: report of two cases. Çocuk Sağlığı ve Hastalıkları Dergisi 2007; 50: 266-269.

Myotubular myopathy, also known as centronuclear myopathy, is a congenital muscle disorder. Based on inheritance, different age of onset, severity of involvement and rapidity of progression, three major patterns have been described. X-linked myotubular myopathy is the most prevalent and severe type. Affected boys frequently die in the neonatal period due to respiratory failure. The characteristic muscle histopathologic finding is centrally positioned nuclei in most muscle fibers. To emphasize the importance of accurate diagnosis of the hypotonic newborn with respiratory distress, we present two cases, including one male and one female newborn, with generalized hypotonia, muscle weakness, and respiratory distress at birth diagnosed as myotubular myopathy by muscle biopsy. Anahtar Kelimeler : Yenidoğan, solunum güçlüğü, miyotübüler miyopati, Newborn, respiratory distress, myotubular myopathy

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