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Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant

Authors
  • Akuamoah-Boateng, Gloria1
  • Stetson, Raymond C.2
  • Kaemingk, Bethany D.2
  • Bieber, David A.3
  • Brumbaugh, Jane E.2
  • 1 Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota
  • 2 Division of Neonatal Medicine, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota
  • 3 Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, Minnesota
Type
Published Article
Journal
AJP Reports
Publisher
Thieme Medical Publishers, Inc.
Publication Date
Apr 01, 2021
Volume
11
Issue
2
Identifiers
DOI: 10.1055/s-0041-1728782
PMID: 34178423
PMCID: PMC8221836
Source
PubMed Central
Keywords
Disciplines
  • Case Report
License
Unknown

Abstract

Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions. We present the case of a preterm male infant born at 32 6/7 weeks' gestation, who was profoundly hypotonic and required intubation at birth. His clinical course progressed from acute to chronic respiratory failure with mechanical ventilation dependence. He developed bilateral chylous pleural effusions during the newborn period. Whole exome sequencing identified an ACTA1 gene mutation leading to the presumed diagnosis of nemaline myopathy. This case highlights the need to include congenital myopathies in the differential for a preterm newborn with hypotonia and respiratory failure.

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