Elsevier

Journal of Pediatric Surgery

Volume 43, Issue 12, December 2008, Pages 2199-2201
Journal of Pediatric Surgery

PAPS Papers
Indication for pediatric muscle biopsy determines usefulness

https://doi.org/10.1016/j.jpedsurg.2008.08.066Get rights and content

Abstract

Purpose

Diagnostic skeletal muscle biopsy is an invasive procedure used for evaluation of neuromuscular disorders. We hypothesize that the yield of biopsy varies with its indication or suspected diagnosis.

Methods

Retrospective review of all muscle biopsies was performed at an academic tertiary care center between January 1, 1996, and August 1, 2006.

Results

A total of 142 muscle biopsies were performed on 127 children. Mean age at biopsy was 5.3 years (median, 3.3; range, 8 days-21 years) with 48% female. Follow-up was maintained for a mean 3.4 years (median, 2.2; range, 1 month-10.4 years). Specific pathological diagnoses were obtained from 33 (23%) of 142. Changes in therapy resulted from 11 (8%) of 142 biopsies. Treatment changed for all patients with prebiopsy suspicion of inflammatory or neoplastic processes (7/7, 100%); these accounted for 7 (64%) of 11 patients with treatment changes. Thirteen patients underwent multiple biopsies, with 1 (8%) patient's treatment adjusted as a result. Fifteen neonates (<100 days) underwent a total of 17 biopsies; none changed treatment plans.

Conclusions

Muscle biopsy for neuromuscular disorders is inconsistently useful. Specific diagnoses are occasionally revealed, but treatment changes are infrequent except in those patients with suspected neoplastic or inflammatory disease. Ongoing study is required to determine the most rational indications for this procedure.

Section snippets

Methods

All patients undergoing muscle biopsy at a single academic tertiary care medical center from January 1, 1996, to August 1, 2006, were identified through a prospectively maintained clinical and administrative surgical database. Medical records of identified patients were retrospectively reviewed through hospital- and clinic-maintained electronic and paper records. All reports of operations, pathology, radiology, inpatient hospitalization summaries, and visits to the neuromuscular disorder

Results

A total of 142 skeletal muscle biopsies were performed on 127 children (see Table 1). Mean age at biopsy was 5.3 years (median, 3.3; range, 8 days-21 years) with an even sex distribution (48% female, 52% male). Follow-up was maintained for a mean of 3.4 years (median, 2.2; range, 1 month-10.4 years). The most common site of biopsy was the quadriceps femoris.

Specific pathological diagnoses were obtained from 33 (23%) of 142 of all children biopsied, and changes in medical therapy resulted from

Discussion

Pediatric open muscle biopsy is an invasive procedure that requires general anesthesia and carries some inherent risk. This retrospective evaluation of a single-center experience over a decade has revealed that the impact on treatment appears to remain modest, in agreement with former reports [3]. Greatest diagnostic information and impact on treatment were observed when the indication for biopsy was suspicion of neoplasia or inflammatory myositis. Patients who underwent repeat biopsies for the

References (8)

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  • Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: A 10-year retrospective critical review

    2018, Journal of Pediatric Surgery
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    Considering the fact that many muscle diseases, especially congenital myopathies, are classified and even defined by pathologic changes, muscle biopsy still plays an important role in disease classification and forecasting, which help to evaluate the pathogenicity of the variants and to establish the genotype–phenotype correlation [6]. Although some previous studies reported the rate of treatment change after muscle biopsy to be as low as 8–19% [1,2], the usefulness of muscle biopsy is limited to those patients with suspected neoplastic or inflammatory muscle diseases [1]. Muscle biopsy remains a useful and beneficial diagnostic tool in children with suspected NMD, especially when muscle disease is suspected.

  • Safety and yield of muscle biopsy in pediatric patients in the modern era

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    A disease-specific therapeutic treatment plan based on the results of the muscle biopsy was recommended in only 19% of patients, 50% of whom had an inflammatory myopathy [1]. A later study showed an even lower diagnostic yield of 8% [3]. In contrast, we found muscle biopsy to be beneficial on several levels.

  • Muscle Biopsy; Processing and Evaluation

    2014, Encyclopedia of the Neurological Sciences
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Presented at 41st annual meeting of the Pacific Association of Pediatric Surgeons, Jackson Lodge, Grand Teton National Park, Wyoming, June 29-July 3, 2008.

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