1985 Volume 17 Issue 6 Pages 565-570
A case of a 2-year-old girl with nemaline myopathy presenting severe respiratory failure was reported. The patient was the product of 38-week-uncomplicated pregnancy with a birth weight of 3, 560 g. Tube feeding was necessary due to poor feeding and transient cyanosis for the first 8 weeks. Her developmental milestones were slightly delayed including sittng at 7 months and walking alone at 20 months. Signs of respiratory failure were first noticed as an episode of lethargy and marked muscle weakness which developed within a few days before admission at the age of 2 years and 6 months.
The physical examination revealed generalized hypotonia, myopathic face, high-arched palate and pectus carinatum. Generalized muscle atrophy was present, predominantly in thoracic muscles, and deep tendon reflexes were not detectable. Electrocardiogram showed probable right atrial and left ventricular hypertrophy. Her respiration was weak, and blood gas analysis showed severe hypoxia and hypercapnia. All other biochemical data on the serum were unremarkable including normal levels of creatine kinase and aldolase. Biopsy of the brachial biceps muscle was performed, and many nemaline rods were found in muscle fibers. Type 1 fibers were predominant and selectively atrophic. She required mechanical ventilation because of her severe respiratory failure.
Nemaline myopathy has been considered to be a relatively benign congenital myopathy. However, the development of severe respiratory failure in early childhood as seen in our case suggests the presence of a rapidly progressive form which is distinct from the non-progressive type.
