Skip to main content
SpringerLink
Log in

Spontaneous Diaphragmatic Rupture in Muscular Dystrophy Misdiagnosed as Pneumothorax: a Case Report

  • Case Report
  • Published:
SN Comprehensive Clinical Medicine Aims and scope Submit manuscript

Abstract

Diaphragmatic rupture is almost always iatrogenic with variable presentation. It should be diagnosed with high suspicion index in blunt thoracic trauma cases. Muscular dystrophy is associated with diaphragmatic muscle weakness. Spontaneous pneumothorax is also common in cases of muscular dystrophy which might be asymptomatic. The knowledge of muscular dystrophy and its varied presentation including the rare presentation of spontaneous diaphragmatic rupture is very important to the clinicians. This was a case of a 9-year-old male child who presented with a semi-acute diaphragmatic hernia that was misdiagnosed as pneumothorax, and a faulty chest drain insertion was done in a background of chronic muscular dystrophy which was later repaired. Clinicians are to have a high index of suspicion in treating patients of muscular dystrophy as they are prone to have rare presentations. A placement of Ryle’s tube before placing intercostal drainage would have prevented the misdiagnosis of the pneumothorax.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

Data Availability

Not applicable

Code Availability

Not applicable

Abbreviations

SDR :

spontaneous diaphragmatic rupture

CT :

computer temograpghy

CPK :

creatinine phosphokinase

References

  1. Gao QQ, McNally EM. The dystrophin complex: structure, function, and implications for therapy. Compr Physiol. 2015;5(3):1223–39.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Lovering RM, Porter NC, Bloch RJ. The muscular dystrophies: from genes to therapies. Phys Ther. 2005;85(12):1372–88.

    Article  PubMed  Google Scholar 

  3. Mauro AL, Aliverti A. Physiology of respiratory disturbances in muscular dystrophies. Breathe. 2016;12(4):318–27.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Llamosas-Falcón L, Sánchez-Díaz G, Gallego E, et al. A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain. Sci Rep. 2022;12:3750.

    Article  ADS  PubMed  PubMed Central  Google Scholar 

  5. Echeverry-Marín PC, Bustamante-Vega ÁM. Anesthetic implications of muscular dystrophies. Colomb J Anestesiol. 2018;46(3):228–39.

    Article  Google Scholar 

  6. Fraser KL, Wong S, Foley AR, Chhibber S, Bönnemann CG, Lesser DJ, Grosmann C, Rutkowski A. Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management. ERJ Open Res. 2017;3(2):111.

    Article  Google Scholar 

  7. Yamamoto T, Kawai M. Spontaneous pneumothorax in Duchenne muscular dystrophy. Rinsho Shinkeigaku. 1994;34(6):552–6.

    CAS  PubMed  Google Scholar 

  8. Pezzoli F, Parigi S, Moroni M, et al. Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report. Acta Biomed. 2023;94(S1): e2023097.

    PubMed  Google Scholar 

  9. BisgaardC Rodenberg JC, Lundgaard J. Spontaneous rupture of the diaphragm. Scand J Thorac Cardiovasc Surg. 1985;19(2):177–80.

    Article  Google Scholar 

  10. Kapoor V, Wright IM. Congenital myotonic dystrophy with cardiac conduction defect and eventration of the diaphragm. Pediatr Int. 2010;52(1):e6–8.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Cardio Thoracic Vascular Anaesthesiology, Institute of Post-Graduate Medical Education and Research (IPGMER), Kolkata, India

    Pavan Kumar Dammalapati

  2. #48-11/3-7/1, Sree Nilayam, K.R.K Street, Vijayawada, Andhra Pradesh, 520008, India

    Pavan Kumar Dammalapati

Authors
  1. Pavan Kumar Dammalapati
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

P.K.D.: the entire work was made from the conception or design of the work, or the acquisition, analysis, or interpretation of data.

P.K.D.: drafted the work or revised it critically for important intellectual content.

P.K.D.: approves the version to be published.

P.K.D.: agrees to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Corresponding author

Correspondence to Pavan Kumar Dammalapati.

Ethics declarations

Ethics Approval

Not applicable

Consent to Participate

Taken from the parents

Consent for Publication

Taken from the parents

Conflict of Interest

The author declares no competing interests.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This article is part of the Topical Collection on Surgery

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Dammalapati, P.K. Spontaneous Diaphragmatic Rupture in Muscular Dystrophy Misdiagnosed as Pneumothorax: a Case Report. SN Compr. Clin. Med. 5, 278 (2023). https://doi.org/10.1007/s42399-023-01619-5

Download citation

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s42399-023-01619-5

Keywords

Search

Navigation