G.P.5.01 Inflammatory or ‘congenital myopathy’ type findings in muscle biopsies of patients with LMNA mutations

Myositis or dystrophy? Traps and pitfalls

“…The presence of inflammatory infiltrates within muscle of young people (without skin features of dermatomyositis) is more likely to be seen as a feature of paediatric LGMD or Duchenne/Becker muscular dystrophy than primary myositis [22]. Moreover, LMNA mutations were recently reported in patients showing substantial inflammatory infiltrates in the muscle biopsy, which could lead to diagnostic error [23]. Eosinophilic myositis is a rare inflammatory myopathy sometimes idiopathic but frequently associated with parasitic infections, systemic hypereosinophilia, vasculitis or intoxication.…”