Recurrent Pneumothoraces in a Patient with Emery Dreifuss Syndrome: A Case Report and Review of the Literature

Krunal H. Patel¹, Elina Shtridler², Violeta Capric¹, Sunny Paghdal¹ and Samy I. McFarlane^1,

¹Department of Internal Medicine, State University of New York, Downstate-Health Science University, Brooklyn, NY, USA - 11203

²Department of Emergency Medicine / Internal Medicine, State University of New York, Downstate Health Science University, Brooklyn, NY, USA - 11203

Cite this paper

Krunal H. Patel, Elina Shtridler, Violeta Capric, Sunny Paghdal and Samy I. McFarlane. Recurrent Pneumothoraces in a Patient with Emery Dreifuss Syndrome: A Case Report and Review of the Literature. American Journal of Medical Case Reports. 2021; 9(2):98-102. doi: 10.12691/AJMCR-9-2-3

Abstract

Emery Dreifuss Muscular Dystrophy (EDMD) is an inherited disorder which leads to progressive worsening of muscular function. In this report, we present a case of a 29 years old woman with EDMD who presented with sudden left anterior chest pain and was diagnosed with recurrent pneumothoraces. We will highlight how a patient with EDMD-related pneumothoraces can develop rapidly worsening ventilatory function resulting in acute hypercapnic respiratory failure. Patients with muscular dystrophies require a high level of acuity on part of the physician to predict. Physician should be on high alert when treating patients with EDMD and pneumothorax given the potential for rapid respiratory deterioration and the requirements of immediate ventilation support. Having the ability to predict the severity of respiratory involvement in patients with EDMD is a key for favorable outcomes, besides prognostication, it also allows physicians to develop an earlier interventional plan for management of potential respiratory failure. In this report, we also provide in-depth review regarding the approach to the assessment of respiratory function in patients with EDMD and the current literature on the management of respiratory complications seen in patients with EDMD, a highly vulnerable population.

Keywords

Emery Dreifuss Muscular Dystrophy, EDMD, Muscular Dystrophies, recurrent pneumothorax

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References

[1]	Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol. 2011; 101: 155-166.
[2]	Emery AE. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord. 2000; 10(4-5): 228-232.
[3]	Bonne G, Quijano-Roy S. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb Clin Neurol 2013; 113: 1367.
[4]	Yates JR. 43rd ENMC International Workshop on Emery-Dreifuss Muscular Dystrophy, 22 June 1996, Naarden, The Netherlands. Neuromuscul Disord. 1997; 7(1): 67-69.
[5]	Shahrizaila N, Kinnear WJ, Wills AJ. Respiratory involvement in inherited primary muscle conditions. J Neurol Neurosurg Psychiatry. 2006; 77(10): 1108-1115.
[6]	Choo-Kang, L. R., Ogunlesi, F. O., McGrath-Morrow, S. A., Crawford, T. O., & Marcus, C. L. (2002). Recurrent pneumothoraces associated with nocturnal noninvasive ventilation in a patient with muscular dystrophy. Pediatric Pulmonology, 34(1), 73-78.
[7]	Zhang Q, Bethmann C, Worth NF, et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007; 16:2816.
[8]	Haberlová J. Evaluation and Treatment of Myopathies. Eur J Hum Genet. 2015; 23(10): 1433.
[9]	Yates JR, Warner JP, Smith JA, et al. Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. J Med Genet 1993; 30: 108.
[10]	Liang WC, Mitsuhashi H, Keduka E, et al. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol 2011; 69: 1005.
[11]	Quijano-Roy S, Mbieleu B, Bönnemann CG, et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008; 64: 177.
[12]	Megan Puckelwartz, Elizabeth m. McNally, Chapter 12 - Emery-Dreifuss muscular dystrophy, Editor(s): Robert C. Griggs, Anthony A. Amato, Handbook of Clinical Neurology, Elsevier, Volume 101, 2011, Pages 155-166.
[13]	Bolliger D, Steiner LA, Kasper J, Aziz OA, Filipovic M, Seeberger MD. The accuracy of non-invasive carbon dioxide monitoring: a clinical evaluation of two transcutaneous systems. Anaesthesia. 2007; 62(4): 394-399.
[14]	Andrea Bianchi, Pierluigi Giuseppe Manti, Federica Lucini, Chiara Lanzuolo, Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous, Nucleus, 9, 1, (321-335), (2018).
[15]	Gilchrist JM, Leshner RT. Autosomal Dominant Humeroperoneal Myopathy. Arch Neurol. 1986; 43(7): 734-735.
[16]	Hopkins, L.C., Jackson, J.A. and Elsas, L.J. (1981), Emery-dreifuss humeroperoneal muscular dystorphy: An X-linked myopathy with unusual contractures and bradycardia. Ann Neurol., 10: 230-237.
[17]	Hacer Durmus, Piraye Serdaroglu-Oflazer, Feza Deymeer, Emery-Dreifuss Muscular Dystrophy, Neuromuscular Disorders of Infancy, Childhood, and Adolescence, (667-678), (2015).
[18]	Homma K, Nagata E, Hanano H, et al. A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. Tokai J Exp Clin Med. 2018; 43(3): 103-105. Published 2018 Sep 20.
[19]	LoMauro A, D'Angelo MG, Aliverti A. Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging options. Ther Clin Risk Manag. 2015; 11: 1475-1488. Published 2015 Sep 28.
[20]	Simonds AK, Muntoni F, Heather S, Fielding S. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax. 1998; 53(11): 949-952.
[21]	Leger P, Bedicam JM, Cornette A, et al. Nasal intermittent positive pressure ventilation. Long-term follow-up in patients with severe chronic respiratory insufficiency. Chest. 1994; 105(1): 100-105.