ISSN 1306-0015 | E-ISSN 1308-6278
Case Report
A rare structural myopathy: nemaline myopathy
1 Bakırköy Dr. Sadi Konuk Eğitim ve Araştırma Hastanesi, Çocuk Yoğun Bakım Birimi, İstanbul, Türkiye  
2 Bakırköy Dr. Sadi Konuk Eğitim ve Araştırma Hastanesi, Çocuk Sağlığı ve Hastalıkları Kliniği, Çocuk Metabolizma Hastalıkları, İstanbul, Türkiye  
3 Bakırköy Dr. Sadi Konuk Eğitim ve Araştırma Hastanesi, Çocuk Sağlığı ve Hastalıkları Kliniği, İstanbul, Türkiye  
4 İstanbul Üniversitesi İstanbul Tıp Fakültesi, Pataloji Anabilim Dalı, İstanbul, Türkiye  
5 İntergen Genetik Merkezi, Klinik Genetik Bölümü, Ankara, Türkiye  
Turk Pediatri Ars ; : -
DOI: 10.5152/TurkPediatriArs.2018.4402
Key Words: ACTA1 gene, hypotonia, muscle biopsy, nemaline myopathy, respiratory failure
Abstract

Nemaline myopathy which is characterized by the accumulation of ‘’rod’’ bodies in the muscle fibers is very rare inherited muscle disease. According to underlying mutation, the disease has various severity of clinical outcomes. The patients who have severe forms of the disease die because of hypotonia, feeding difficulties, aspiration pneumonia, and respiratory failure in neonatal or infancy period. Mild forms the disease present with walking-swallowing diffuculties and respiratory distress in late childhood or adulthood. Two-and-a-half-month-old boy was followed in our pediatric intensive care unit with hypotonia, pneumonia, and respiratory distress. Nemaline myopathy was diagnosed as the result of muscle biopsy. In advanced molecular examination revealed heterozygous mutations in the Skeletal Muscle α-Actin (ACTA1) gene which is the second most common cause of this disease. Nemaline myopathy should be kept in mind in all age groups with respiratory failure and difficulty walking secondary to muscle weakness. 

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