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CC BY-NC-ND 4.0 · AJP Rep 2021; 11(02): e91-e94
DOI: 10.1055/s-0041-1728782
Case Report

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

Gloria Akuamoah-Boateng
1   Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota
,
Raymond C. Stetson
2   Division of Neonatal Medicine, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota
,
Bethany D. Kaemingk
2   Division of Neonatal Medicine, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota
,
David A. Bieber
3   Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, Minnesota
,
Jane E. Brumbaugh
2   Division of Neonatal Medicine, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota
› Author Affiliations Funding None.
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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 326/7 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.

Keywords

congenital - floppy - premature - hypotonic - newborn - actin


Publication History

Received: 01 December 2020

Accepted: 23 February 2021

Article published online:
23 June 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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