Skip to main content

Does muscle biopsy change the treatment of pediatric muscular disease?

Abstract

Background

Muscle biopsy is performed to confirm the diagnosis of neuromuscular disease and guide therapy. The purpose of our study was to determine if muscle biopsy changed patient diagnosis or treatment, which patients were most likely to benefit from muscle biopsy, and complications resulting from muscle biopsy.

Materials and methods

An IRB-approved retrospective chart review of all patients less than 18 years old undergoing muscle biopsy between January 2010 and August 2016 was performed. Demographics, patient presentation, diagnosis, treatment, hospital course, and follow-up were evaluated. Descriptive and comparative (student’s t test, Mann–Whitney U, and Fisher’s exact test) statistical analysis was performed. Medians were reported with interquartile range (IQR).

Results

90 patients underwent a muscle biopsy. The median age at biopsy was 5 years (2, 10). 37% (n = 34) had a definitive diagnosis. 39% (n = 35) had a change in their diagnosis. 37% (n = 34) had a change in their treatment course. In the 34 patients who had a change in their treatment, the most common diagnosis was inflammatory disease at 44% (n = 15). In the 56 patients who did not have a change in treatment, the most common diagnosis was hypotonia at 30% (n = 17). There was no difference in patients who had a change in treatment based on pathology versus those that did not. The median length of follow-up was 3 years (1, 5).

Conclusions

Muscle biopsy should be considered to diagnose patients with symptoms consistent with inflammatory or dystrophic muscular disease. The likelihood of this altering the patient’s treatment course is around 40%.

This is a preview of subscription content, access via your institution.

Fig. 1

References

  1. Thavorntanaburt S, Tanboon J, Likasitwattanakul S et al (2017) Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: a 10-year retrospective critical review. J Pediatr Surg. https://doi.org/10.1016/j.jpedsurg.2017.06.006

    PubMed  Article  Google Scholar 

  2. Gibreel WO, Selcen D, Zeidan MM et al (2014) Safety and yield of muscle biopsy in pediatric patients in the modern era. J Pediatr Surg 49:1429–1432. https://doi.org/10.1016/j.jpedsurg.2014.02.079

    Article  PubMed  Google Scholar 

  3. Jamshidi R, Harrison MR, Lee H et al (2008) Indication for pediatric muscle biopsy determines usefulness. J Pediatr Surg 43:2199–2201. https://doi.org/10.1016/j.jpedsurg.2008.08.066

    Article  PubMed  Google Scholar 

  4. Nilipor Y, Shariatmadari F, Abdollah Gorji F et al (2013) Evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. Iran J Child Neurol 7:17–21

    PubMed  PubMed Central  Google Scholar 

  5. Flick RP, Gleich SJ, Herr MMH, Wedel DJ (2007) The risk of malignant hyperthermia in children undergoing muscle biopsy for suspected neuromuscular disorder. Paediatr Anaesth 17:22–27. https://doi.org/10.1111/j.1460-9592.2006.02105.x

    Article  PubMed  Google Scholar 

  6. Reynolds EM, Thompson IM, Nigro MA et al (1999) Muscle and nerve biopsy in the evaluation of neuromuscular disorders: the surgeon’s perspective. J Pediatr Surg 34:588–590

    Article  PubMed  CAS  Google Scholar 

  7. Skram MK, Gulati S, Larsson E et al (2009) Muscle biopsies in children—an evaluation of histopathology and clinical value during a 5-year period. Ups J Med Sci 114:41–45. https://doi.org/10.1080/03009730802604949

    Article  PubMed  PubMed Central  Google Scholar 

  8. Simon MA, Biermann JS (1993) Biopsy of bone and soft-tissue lesions. J Bone Jt Surg Am 75:616–621

    Article  CAS  Google Scholar 

  9. Simon MA (1982) Biopsy of musculoskeletal tumors. J Bone Jt Surg Am 64:1253–1257

    Article  CAS  Google Scholar 

  10. Avedian RS (2014) Principles of musculoskeletal biopsy. Cancer Treat Res 162:1–7. https://doi.org/10.1007/978-3-319-07323-1_1

    Article  PubMed  Google Scholar 

  11. Mankin HJ, Mankin CJ, Simon MA (1996) The hazards of the biopsy, revisited. Members of the Musculoskeletal Tumor Society. J Bone Jt Surg Am 78:656–663

    Article  CAS  Google Scholar 

  12. Exner GU, Kurrer MO, Mamisch-Saupe N, Cannon SR (2017) The tactics and technique of musculoskeletal biopsy. EFORT Open Rev 2:51–57. https://doi.org/10.1302/2058-5241.2.160065

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Funding

No funding was received to conduct this study.

Author information

Authors and Affiliations

Authors

Contributions

JS: concept and design, data collection, data analysis and interpretation, drafting article, critical revision of article, approval of article, and statistics. NL: data collection, data analysis and interpretation, drafting article, and approval of article. JS: data collection, data analysis and interpretation, and drafting article. LAB: drafting article, critical revision of article, approval of article, and statistics. RR: concept and design. HA: concept and design, data collection, data analysis and interpretation, drafting article, critical revision of article, approval of article, and statistics. SDSP: concept and design, data collection, data analysis and interpretation, drafting article, critical revision of article, approval of article, and statistics.

Corresponding author

Correspondence to Shawn D. St. Peter.

Ethics declarations

Conflict of interest

The authors have no conflict of interest to disclose.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

Informed consent

Informed consent was waived by our IRB due to the fact that the data collected for this study was retrospective and de-identified.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Sujka, J.A., Le, N., Sobrino, J. et al. Does muscle biopsy change the treatment of pediatric muscular disease?. Pediatr Surg Int 34, 797–801 (2018). https://doi.org/10.1007/s00383-018-4285-6

Download citation

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00383-018-4285-6

Keywords

  • Muscle biopsy
  • Myositis
  • Hypotonia
  • Myopathy
  • Muscular dystrophy