Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

In a newborn with severe respiratory failure and abnormal elevation of the right diaphragm, congenital diaphragmatic hernia with sac was diagnosed during surgery. However, microscopic examination of the sac showed atrophic striated muscle cells, indicating eventration instead of hernia. After several extubation failures, the final diagnosis of nemaline myopathy was made by skeletal muscle biopsy. In diaphragmatic defects with sac, diaphragm microscopic analysis should be recommended in order to discriminate between hernia and eventration. Congenital myopathies may underlie such diaphragmatic defects and should be promptly recognized, given their prognostic implications.