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Updated: May 8, 2026
Human Vastus Lateralis Skeletal Muscle Biopsy Using the Weil-Blakesley Conchotome
Published on: March 4, 2016
[Muscle biopsy in children: Usefulness in 2012]
J-M Cuisset1, C-A Maurage, A Carpentier
1Service de neuropédiatrie, hôpital Roger-Salengro, CHRU, rue du Professeur-Émile-Laine, 59037 Lille cedex, France; Centre de référence des maladies neuromusculaires, CHRU, 2, rue André-Verhaeghe, 59037 Lille cedex, France.
Insights
Pediatric muscle biopsy is crucial for diagnosing childhood neuromuscular disorders. This study found that muscle biopsies provide specific histopathological anomalies in 44% of cases, aiding etiological and genetic diagnoses.
Area of Science:
- Pediatric Neurology
- Neuropathology
- Clinical Genetics
Background:
- Muscle biopsy is a primary diagnostic method for pediatric neuromuscular disorders.
- Investigating neuromuscular disorders in children requires accurate etiological diagnosis.
Purpose of the Study:
- To evaluate the diagnostic yield of pediatric muscle biopsies.
- To determine the contribution of muscle biopsy to etiological and genetic diagnoses in children.
Main Methods:
- Retrospective analysis of 419 pediatric muscle biopsies performed between 2000 and 2009.
- Inclusion of mitochondrial respiratory chain analysis for a subset of patients.
- Histopathological and genetic correlation for diagnosis.
Main Results:
- Muscle biopsy provided specific histopathological anomalies in 184 patients (44%), enabling etiological diagnosis.
- Biopsies led to genetic diagnoses in 85% of progressive muscular dystrophies and focused gene identification in congenital myopathies.
- Specific anomalies included dystrophic, neurogenic, metabolic, and ultrastructural findings, aiding in phenotypes like Duchenne or Becker muscular dystrophy.
Conclusions:
- Pediatric muscle biopsy is indispensable for establishing the etiological diagnosis in children with myopathies.
- Muscle biopsy offers precise diagnostic orientation in approximately 45% of pediatric cases, guiding genetic investigations.
- The study highlights the significant role of muscle biopsy in diagnosing a wide spectrum of neuromuscular disorders in children.
Abstract:
Muscle biopsy is a mainstay diagnostic tool for investigating neuromuscular disorders in children. We report the yield of pediatric muscle biopsy in a population of 415 children by a retrospective study of 419 biopsies performed between 1/01/2000 and 31/12/2009 in a neuropediatric department, including mitochondrial respiratory chain analysis for 87 children. Two hundred and fifty-five biopsies were from boys (61%) 164 from girls (39%). Their mean age at biopsy was 6.5years; 155 (37%) biopsies were obtained before the child was 5years old. Final histopathological diagnoses were: congenital myopathy (n=193, including 15 structural congenital myopathies); progressive muscular dystrophy (n=75 [18%] including 57 dystrophinopathies); congenital muscular dystrophy (n=17, including six primary merosinopathies); dermatomyositis (n=11); spinal muscular atrophy (n=9, including six atypical spinal muscular atrophies); metabolic myopathy (n=32, including 19 mitochondrial myopathies); encephalomyopathy (n=53 [13%], including 27 with a mitochondrial respiratory chain defect). Pathological diagnosis remained undetermined in 16 cases. In 184 patients (44%), the muscle biopsy revealed specific histopathological anomalies (dystrophic process; specific ultrastructural abnormalities; perifascicular atrophy; neurogenic atrophy; metabolic anomalies) enabling a precise etiological diagnosis. For 85% of progressive muscular dystrophies, the biopsy resulted in a genetic diagnosis after identification of the protein defect. In 15% of the congenital myopathies, histopathological anomalies focused attention on one or several genes. Concerning dystrophinopathies, quantification of dystrophin deficiency on the biopsy specimen contributed to the definition of the clinical phenotype: Duchenne, or Becker. In children with a myopathy, muscle biopsy is often indispensable to establish the etiological diagnosis. Based on the results from this series, muscle biopsy can provide a precise orientation in 45% of patients, leading to a genetic hypothesis.
