Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia.
(2007) Journal of Pediatric Surgery — Vol. 42, n° 7, p. E19-E22 (2007)
Files
2007_Danhaive_J_Pediatr_Surg.pdf
Restricted Access - Adobe PDF
- 403.47 KB
Details
- Authors
- Abstract
- 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.
- Affiliations
Bambino Gesù Children’s Hospital, Rome Department of Medical and Surgical Neonatology
Citations
Danhaive, O., Lozzi, S., D’amico, A., Devito, R., Boldrini, R., Corchia, C., Bagolan, P., & Bertini, E. (2007). Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia. Journal of Pediatric Surgery, 42(7), E19-E22. https://doi.org/10.1016/j.jpedsurg.2007.04.030 (Original work published 2007)