American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: Editor-in-chief: Samy, I. McFarlane
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American Journal of Medical Case Reports. 2021, 9(2), 98-102
DOI: 10.12691/ajmcr-9-2-3
Open AccessCase Report

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. McFarlane1,

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

Pub. Date: December 13, 2020

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


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.

Emery Dreifuss Muscular Dystrophy EDMD Muscular Dystrophies recurrent pneumothorax

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