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Involvement of respiratory muscles in cytoplasmic body myopathy--a pathology study
E Bertini1, E Ricci, R Boldrini
1Department of Neuropediatrics and Metabolism, Bambino Gesu Hospital, Rome, Italy.
Insights
This study details a case of infantile cytoplasmic body myopathy in a 14-month-old child. The condition was identified by numerous cytoplasmic bodies (CBs) in respiratory muscles, leading to respiratory failure.
Area of Science:
- Pediatric Pathology
- Neuromuscular Disorders
- Muscle Histology
Background:
- Infantile cytoplasmic body myopathy is a rare neuromuscular disorder.
- Respiratory failure is a common complication in severe pediatric myopathies.
Abstract:
A muscle biopsy and autopsy study of a child who died at 14 months of respiratory failure is described. A diagnosis of infantile cytoplasmic body myopathy was made due to the high percentage of cytoplasmic bodies (CBs), particularly in respiratory muscles. No pathological abnormalities were found in the central nervous system, peripheral nerves or visceral organs. Immunohistochemical studies suggested that the central core of CBs was stained for fibrillary actin, being surrounded by a positive signal for desmin. A differential diagnosis as to other conditions involving proliferation of CBs is discussed.