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Case Reports
. 2019 Mar 1;54(1):49-52.
doi: 10.5152/TurkPediatriArs.2018.4402. eCollection 2019.

A rare structural myopathy: Nemaline myopathy

Osman Yeşilbaş  1 , Esra Şevketoğlu  1 , Hasan Serdar Kıhtır  1 , Melike Ersoy  2 , Mey Talip Petmezci  1 , Canan Hasbal Akkuş  3 , Önder Şahin  4 , Serdar Ceylaner  5
Affiliations
Case Reports

A rare structural myopathy: Nemaline myopathy

Osman Yeşilbaş et al. Turk Pediatri Ars. .

Abstract
in English, Spanish

Nemaline myopathy, which is characterized by the accumulation of ''rod'' bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes. Patients with severe forms of the disease die because of hypotonia, feeding difficulties, aspiration pneumonia, and respiratory failure in the neonatal or infancy period. Mild forms of the disease present with walking-swallowing difficulties and respiratory distress in late childhood or adulthood. A two-and-a-half-month-old boy was monitored in our Pediatric Intensive Care Unit with hypotonia, pneumonia, and respiratory distress. Nemaline myopathy was diagnosed as the result of a muscle biopsy. An 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 patients of all age groups with respiratory failure and walking difficulty secondary to muscle weakness.

Nemalin miyopatisi oldukça nadir görülen kalıtımsal bir kas hastalığı olup kas liflerinde ‘’rod’’(nemalin) cisimciği birikimi ile tanımlanmaktadır. Hastalık altta yatan mutasyona ve mutasyonun kalıtım biçimine göre değişen ağırlıkta klinik gidişe sahiptir. Ağır şekillerinde olgular yutma ve solunum kaslarının etkilenmesi sonucu beslenme yetersizliği, aspirasyon pnömonisi ve solunum yetmezliği nedeni ile yenidoğan ya da süt çocukluğu döneminde kaybedilmektedir. Geç başlangıçlı hafif olgular yaşam kalitesini bozan yürüme-yutma zorluğu ve solunum sıkıntısı ile geç çocukluk ya da erişkin yaşta bulgu verebilmektedir. Hipotoni, pnömoni ve solunum sıkıntısı ile Çocuk Yoğun Bakım Birimi’nde izlenen iki buçuk aylık erkek bebeğe kas biyopsisi sonucu nemalin miyopatisi tanısı koyuldu. İleri moleküler inceleme sonucu hastalığın ikinci en sık nedeni olan “Skeletal Muscle α-Actin” (ACTA1) geninde heterozigot mutasyon saptandı. Yenidoğan döneminden erişkin döneme kadar kas güçsüzlüğüne bağlı solunum yetmezliği ve yutma-yürüme güçlüğü varlığında yapısal miyopatiler içinde nemalin miyopatisi akılda bulundurulmalı, şüphenilen olgulara kas biyopsisi ya/ya da genetik inceleme yapılmalıdır.

Keywords: ACTA1 gene; hypotonia; muscle biopsy; nemaline myopathy; respiratory failure.

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Conflict of interest statement

Conflict of Interest: No conflict of interest was declared by the authors.

Figures

Figure 1
Figure 1
(a) Difference in diameter between both types of muscle fibers with modified Gomori-trichrome staining (more prominent in the type 1 muscle fibers), increased endomisial connective tissue and intracytoplasmic dark red-blue tubular structures (“rods”) with a small diameter located in the periphery (more intensive and prominent in the atrophic type 1 muscle fibers) on light microscopic examination on muscle biopsy. (b) Activity with NADH-TR histochemical staining in the areas compatible with the intracytoplasmic dark red-blue tubular structures (“rods”) with a small diameter located in the periphery (arrows). (c) Activity with COX enzyme histochemical staining in the areas compatible with the intracytoplasmic dark red-blue tubular structures (“rods”) with a small diameter located in the periphery (arrows)
Figure 2
Figure 2
YNM_001100.3: c.1075A>C (p.I359L) (heterozygous) mutation in the ACTA1 gene whole genome sequencing performed using new-generation sequence analysis
See this image and copyright information in PMC

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