title: Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia.
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.
authors.affiliation: Laboratory of Neonatal Biology, Bambino Gesù Children's Hospital, 00165 Rome, Italy. danhaive@opbg.net
authors.forename: Olivier
authors.initials: O
authors.lastname: Danhaive
authors.forename: Simona
authors.initials: S
authors.lastname: Lozzi
authors.forename: Adele
authors.initials: A
authors.lastname: D'amico
authors.forename: Rita
authors.initials: R
authors.lastname: Devito
authors.forename: Renata
authors.initials: R
authors.lastname: Boldrini
authors.forename: Carlo
authors.initials: C
authors.lastname: Corchia
authors.forename: Piero
authors.initials: P
authors.lastname: Bagolan
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006548:Hernia, Diaphragmatic / Q000175:diagnosis; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D017696:Myopathies, Nemaline / Q000175:diagnosis* / Q000601:surgery*; D013902:Radiography, Thoracic