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Updated: Jun 16, 2026

Immunolabelling Myofiber Degeneration in Muscle Biopsies
Published on: December 5, 2019
Macrophagic myofasciitis plus (distinct types of muscular dystrophy)
H D Müller1, F K H van Landeghem, P F Schmidt
1Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany. mueller@neuropatho.klinik.uni-mainz.de
Abstract:
Macrophagic myofasciitis (MMF) is a well-known lesion following vaccination with aluminium-containing vaccines. It has abundantly been reported in adults and several times in children, often in single patients or in rather small cohorts. Only few of these published reports on children have shown distinct myopathology of another neuromuscular disease except for MMF. Indications for biopsy often were nondescript clinical features in children, such as hypotonia or delay in motor development but, apparently, never that of suspected MMF. Thus, in previous reports as well as in our two patients, encountering MMF in the biopsied tissue specimens was coincidental. Our two unrelated patients with MMF also had two separate types of muscular dystrophy, a merosinopathy and dystrophinopathy, showing a combination of myopathologically well-defined neuromuscular diseases, muscular dystrophies and MMF. Detecting such a combination of two separate conditions may, in the future, be rare when non-invasive techniques, e. g., genetic, will have replaced muscle biopsy in ascertaining hereditary neuromuscular conditions, especially in children.
Insights
Macrophagic myofasciitis (MMF), a vaccine lesion, was coincidentally found alongside distinct muscular dystrophies in two children. This rare combination highlights the diagnostic challenges in pediatric neuromuscular diseases.
Area of Science:
- Neuropathology
- Pediatric Neurology
- Vaccinology
Background:
- Macrophagic myofasciitis (MMF) is a recognized lesion associated with aluminum-containing vaccines.
- MMF has been documented in adults and, less frequently, in children, often as isolated cases.
Observation:
- This study presents two unrelated pediatric cases where MMF was incidentally discovered during muscle biopsies.
- These patients also exhibited distinct myopathologies: merosinopathy and dystrophinopathy, respectively.
Findings:
- The cases demonstrate a rare co-occurrence of MMF and genetically distinct muscular dystrophies in pediatric patients.
- MMF detection in these instances was coincidental, as muscle biopsies were indicated for non-specific symptoms like hypotonia or developmental delay, not suspected MMF.
Implications:
- The findings underscore the importance of thorough histopathological examination, even when MMF is an incidental finding.
- As non-invasive genetic testing advances, the simultaneous diagnosis of MMF and hereditary neuromuscular conditions like muscular dystrophies may become increasingly rare in pediatric diagnostics.
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