PAPS PapersIndication for pediatric muscle biopsy determines usefulness
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)
- et al.
Muscle and nerve biopsy in the evaluation of neuromuscular disorders: the surgeon's perspective
J Pediatr Surg
(1999) - et al.
Investigation of children for mitochondriopathy confirms need for strict patient selection, improved morphological criteria, and better laboratory methods
Hum Pathol
(2006) - et al.
Congenital muscular dystrophy: correlation of muscle biopsy and clinical features
Pediatr Neurol
(1994) - et al.
Electromyography (EMG) accuracy compared to muscle biopsy in childhood
J Child Neurol
(2007)
Cited by (13)
Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: A 10-year retrospective critical review
2018, Journal of Pediatric SurgeryCitation Excerpt :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
2014, Journal of Pediatric SurgeryCitation Excerpt :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 SciencesMuscle biopsy in children: Usefulness in 2012
2013, Revue NeurologiqueThe role of skeletal muscle biopsy in the diagnosis of neuromuscular disorders
2010, Neurologia i Neurochirurgia PolskaMuscle biopsy practices in the evaluation of neuromuscular disease: A systematic literature review
2023, Neuropathology and Applied Neurobiology
Presented at 41st annual meeting of the Pacific Association of Pediatric Surgeons, Jackson Lodge, Grand Teton National Park, Wyoming, June 29-July 3, 2008.